Pubmed abstracts for Protein-Protein Interaction search result :

Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.57771841
Interestingly , this insertion in a part of the dystrophin considered to interact with the dystrophin binding complex of the sarcolemma is apparently compatible with mild BMD like clinical features . 0.57771841^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Serum CPK was measured in 135 families with Duchenne muscular dystrophy ( DMD ) and 19 with the Becker type ( BMD ) . ^^^ Increased CPK was found in 62 % of the carriers of DMD and 62 . 5 % of the BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and the less severe Becker form of muscular dystrophy ( DMD , BMD ) result from genetic deficiency in the level and / or activity of the protein dystrophin . ^^^ The cDNA construct which is based on a very mild BMD phenotype thus encodes a highly functional dystrophin molecule whose reduced size renders it an attractive candidate for development as a therapeutic gene transfer reagent . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and Becker muscular dystrophies ( DMD and BMD ) are two allelic recessive 10 linked disorders . ^^^ Molecular deletions of various regions of the dystrophin gene are the main mutations detected in DMD and BMD patients . ^^^ Molecular study of DMD and BMD DNA are instrumental to understand the pathological molecular mechanisms and the function of the protein . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Early differentiation between Duchenne and Becker muscular dystrophy : clinical , laboratory , electrophysiology , histochemical , and immunohistochemical study of 138 cases ] . 194 clinical , laboratory , electrophysiologic , histological , histochemical and immunohistochemical parameters were studied through statistical analysis in 112 cases of Duchenne muscular dystrophy ( DMD ) and in 26 cases of Becker muscular dystrophy ( BMD ) . ^^^ Isolatedly muscle biopsy gave the correct diagnosis in 52 . 7 % of DMD cases and in 69 . 2 % of BMD cases . ^^^ Dystrophin detection by immunofluorescence ( 60 cases ) showed : absence in 87 . 0 % of fibers in DMD cases , and sarcolemmal membrane discontinuites in all BMD cases . ^^^ The muscle biopsy diagnosis had an agreement with the dystrophin results in 82 . 6 % of DMD cases and 71 . 4 % of BMD cases . . ^^^ Dystrophin detection by immunofluorescence ( 60 cases ) showed : absence in 87 . 0 % of fibers in DMD cases , and sarcolemmal membrane discontinuites in all BMD cases . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To ascertain whether dystrophin immunohistochemistry could improve DMD / BMD carrier detection , we analyzed 14 muscle biopsies from 13 DMD and one BMD probable and possible carriers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Clinical evidence is presented supporting the hypothesis that the metabolic abnormality in the dystrophin defective muscular dystrophies ( DMD and BMD ) involves the ATP pathway . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , a protein product of the gene that is affected in Duchenne / Becker muscular dystrophy ( DMD / BMD ) , is localized on the sarcolemma of muscle fibers . ^^^ We tried to study various neuromuscular disorders , including DMD / BMD and their carriers , by the immunohistochemical method with two types of anti dystrophin antibodies . ^^^ In members of DMD / BMD families , polyclonal antibody stains did not show definite membrane abnormality . ^^^ Dystrophin study in muscle diseases is a helpful tool for the following reasons : 1 ) it improves diagnostic accuracy and helps to differentiate variant types of muscle disorders ; 2 ) it makes an early diagnosis possible before the onset of the symptoms of DMD / BMD ; and 3 ) it detects nonsymptomatic carriers of DMD / BMD . ^^^ Dystrophin , a protein product of the gene that is affected in Duchenne / Becker muscular dystrophy ( DMD / BMD ) , is localized on the sarcolemma of muscle fibers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and Becker muscular dystrophy ( DMD , BMD ) have both been clinically recognized for over 100 years , yet throughout much of that time nothing beyond clinical evaluation and supportive care during the disease course was available to patients . ^^^ The identification of the molecular basis of DMD / BMD in 1986 paved the way for extensive progress toward the understanding , diagnosis and treatment of this disease . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have developed a fast and accurate PCR based linkage and carrier detection protocol for families of Duchenne muscular dystrophy ( DMD ) / Becker muscular dystrophy ( BMD ) patients with or without detectable deletions of the dystrophin gene , using fluorescent PCR products analyzed on an automated sequencer . ^^^ When a deletion is found in the affected male DMD / BMD patient by standard multiplex PCR , fluorescently labeled primers specific for the deleted and nondeleted exon ( s ) are used to amplify the DNA of at risk female relatives by using multiplex PCR at low cycle number ( 20 cycles ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A total of 161 unrelated Duchenne ( DMD ) and Becker muscular dystrophy ( BMD ) patients were screened for deletions in the brain promoter region of the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A total of 56 Duchenne muscular dystrophy ( DMD ) patients and 11 Becker muscular dystrophy ( BMD ) patients was analyzed by extended `` multiplex ' ' amplification of the DMD / BMD gene ; deletions were found in 60 % of these patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To determine the mutations of Southern Chinese with Duchenne and Becker muscular dystrophies ( DMD , BMD ) , we analysed 28 DMD and BMD patients in 24 unrelated families for intragenic deletions and duplications by using cDNA probes covering the entire 14 kb of the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In a previous study we identified 14 cases with Duchenne muscular dystrophy ( DMD ) or its milder variant , Becker muscular dystrophy ( BMD ) , with a deletion of exons 3 7 , a deletion that would be expected to shift the translational reading frame of the mRNA and give a severe phenotype . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We present here a unique expression of dystrophin on biopsied muscle from 2 siblings with Becker muscular dystrophy ( BMD ) . ^^^ We speculate that the developmental delay in the expression of dystrophin is a characteristic finding in regenerating fibers from asymptomatic and young BMD patients , such as the siblings in this report . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We examined muscle biopsies from five patients with Duchenne muscular dystrophy ( DMD ) , two with Becker ' s muscular dystrophy ( BMD ) , three normal human muscle samples , and four biopsies from disease control patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The analysis of dystrophin in skeletal muscles was performed to identify Duchenne and Becker muscular dystrophy ( DMD and BMD ) by means of immunohistochemical stain and Western blotting with antisera against synthetic dystrophin peptides . ^^^ The control muscle specimens derived from normal healthy persons , and patients without DMD and BMD revealed clearly continuous stains of dystrophin at surface membrane . ^^^ These results indicate that the dystrophin analysis by both methods is an useful tool for the differential diagnosis of patients with DMD and BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Allele specific molecular diagnosis of Duchenne and Becker muscular dystrophies ( DMD and BMD ) has been largely dependent upon muscle biopsy for dystrophin protein assay . ^^^ We performed lymphocyte DNA mutation analysis by polymerase chain reaction on 14 boys presenting with a clinical picture compatible with DMD or BMD . ^^^ DNA analysis revealed that 12 of 14 boys had a deletion of the dystrophin gene , thus establishing the diagnosis of DMD / BMD . ^^^ Furthermore , genotypes for 9 of 12 deletion patients permitted prediction of the specific allelic disorder ( i . e . , DMD or BMD ) . ^^^ We propose that DNA mutation analysis be included in the initial evaluation of patients suspected of having DMD / BMD , thus potentially eliminating the need for muscle biopsy in the majority of patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We report the results of screening for molecular deletions in 164 boys with DMD and BMD and correlation of deletions with clinical features . ^^^ All deletions except one ( deletion of exons 48 53 ) found in males with DMD disrupted the translational reading frame of the gene ; however , six deletions in boys with BMD were out of frame . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Becker muscular dystrophy ( BMD ) often results from in frame mutations of the dystrophin gene , leading to the production of an altered sized protein . ^^^ We examined the expression of dystrophin in a BMD patient and in his asymptomatic mother by Western blot and immunofluorescence . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and the allelic milder form of Becker muscular dystrophy ( BMD ) are caused by mutations of the dystrophin gene on the short arm of the 10 chromosome . ^^^ These results emphasize the value of an approach correlating genetic and immunological data for the definition of a carrier state in BMD or DMD . ^^^ The possibility of somatic mosaicism should be considered when genetic counselling of a family with a sporadic case of BMD or DMD is performed . . ^^^ The mother of a BMD son and a BMD carrier daughter , both carrying a deletion of dystrophin cDNA 7 ( 0 . 5 kb Hind 3 fragment ) and cDNA 8 , was herself clinically healthy and had normal creatine kinase levels . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The rapid progress of research on the structure of the dystrophin gene has enormously increased our understanding of the molecular basis of Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy . ^^^ We describe two families which were initially classified as metabolic myopathies , until the diagnosis of atypical BMD was established after dystrophin analysis at the protein and DNA level . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We developed a method for the detection of Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) carriers . ^^^ The method is based on the quantitative analysis of the products of standard multiplex polymerase chain reaction ( PCR ) from 18 different exons of the dystrophin gene , and is designated `` QM PCR . ' ' We detected deletions of one or more exons by standard multiplex PCR in DMD / BMD patients in 14 of 18 families examined ( 77 . 7 % ) . ^^^ In five families where deletions were detectable in DMD / BMD patients , the mothers did not exhibit any deletions in their peripheral blood ( 35 . 7 % ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Neither extended multiplex PCR performed on DNA from the proband nor analysis of lymphocyte derived mRNA showed a structural alteration in the dystrophin gene suggesting that an unusual mutation was responsible for BMD in this family . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The abundance ( on blots ) of `` C terminal dystrophin ' ' appears lower than `` rod dystrophin ' ' in both BMD and DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) the protein is known to be dystrophin . ^^^ The glutathione cycling components , in particular glutathione and glutathione peroxidase , are significantly elevated in DMD , BMD and other diseases . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We describe a partial TaqI map of the dystrophin gene , obtained mainly by analysis of 87 overlapping DMD / BMD deletions with small fragments of the dystrophin cDNA probes ; exon 6 of the dystrophin gene was identified on the TaqI map using the polymerase chain reaction . ^^^ The five polymorphisms are analysed concomitant with screening for deletions on the TaqI map , and in the one third of DMD / BMD cases with no detected deletion the polymorphism information may be used for counselling . ^^^ In this region of the dystrophin gene , all of 41 DMD deletions resulted in a shift of reading frame and all of 10 BMD patients maintained reading frame , in agreement with the ' reading frame hypothesis ' . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We studied membrane ultrastructural localization of anionic phospholipids ( AP ) and sialic acid ( SA ) calcium binding sites in muscle biopsies from Duchenne muscular dystrophy ( DMD ) and 3 Becker ' s muscular dystrophy ( BMD ) patients using polymyxin B ( PXB ) and limulus polyphemus ( LP ) as cytochemical markers . ^^^ Sialic acid calcium binding sites have the same localization along plasma membrane and basal lamina in DMD , BMD , and control muscles . ^^^ The absence or alterations of structures involved in calcium binding in DMD and BMD may alter membrane calcium permeability , leading to abnormal Ca2+ influx into cells causing muscle necrosis . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A homologue of dystrophin is expressed at the blood vessel membrane of DMD and BMD patients : immunological evidence . ^^^ Muscles from Becker muscular dystrophy ( BMD ) and Duchenne muscular dystrophy ( DMD ) patients were analysed using monoclonal and polyclonal antibodies raised against different regions of the dystrophin molecule . ^^^ Immunocytochemical labelling of tissue sections from the same patients showed that the same two antibodies labelled a protein at the surface membrane of smooth muscle fibers in blood vessels of both BMD and DMD muscles . ^^^ On blot , two of the antibodies detected a protein of Mr 400K in muscle extracts from all patients , including a BMD patient with a deletion which spanned more than 40 % of the central rod domain of the Xp 21 encoded dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We examined the nucleotide sequence of deleted part of dystrophin mRNA and its translational product with immunoblot and immunohistochemical methods in a 6 year old boy with a deleted DMD / BMD gene . ^^^ On Southern blot analysis of his genomic DNA , we found a deletion of exons 10 to 37 in the DMD / BMD gene , which was expected to preserve the translational open reading frame ( ORF ) . ^^^ In contrast , with nondeleted region directed antiserum , all the muscle cell membrane was stained continuously as in non DMD / BMD individuals . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients . ^^^ Mutations in the muscle promoter region and exonic deletions were screened in a series of 115 unrelated DMD and BMD patients from north east Italy . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The purpose of the present investigation was to assess the possibility of building a model to estimate , through dystrophin western blotting analysis , the expression of the DMD / BMD gene in muscle from heterozygotes . ^^^ Dystrophin was analysed by mixing in increasing proportions ( from 0 % to 100 % ) aliquots of solubilised muscle from BMD patients with a qualitatively abnormal dystrophin and a normal male control . ^^^ In five obligate BMD carriers , two dystrophin bands were observed ( corresponding to the products from the 10 bearing the normal and the BMD alleles ) , even among those with normal serum enzyme activities . ^^^ Surprisingly , in the four obligate BMD carriers related to patients in whom an additional dystrophin fragment of 250 kd was present ( two of them with raised serum enzymes ) , this band could not be seen , suggesting that the stability or the mechanism responsible for the synthesis of abnormal dystrophin products differs in heterozygotes compared to affected patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In our investigation of Duchenne muscular dystrophy ( DMD ) Becker muscular dystrophy ( BMD ) gene in the Chinese , the analysis of relevant restriction fragment length polymorphisms ( RFLPs ) was first made in 30 normal female volunteers to determine their allele and genotype frequencies , and then in 29 DMD BMD families for informativeness of different combinations of RFLPs in making carrier detection and prenatal diagnosis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Immunohistochemical localization of dystrophin was studied in a symptomatic carrier of Becker muscular dystrophy ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DNA analysis was performed on 19 unrelated Duchenne muscular dystrophy ( DMD ) families and one Becker muscular dystrophy ( BMD ) family in Japan to determine their carrier status . ^^^ Carrier status could be determined in 18 out of 20 clients who were at risk for DMD / BMD carrier status from 20 families , similar to the rate of detection in Caucasians . ^^^ In addition , an optimum strategy for carrier detection in Japanese DMD / BMD families was proposed . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We studied 38 unrelated patients from southern France with Duchenne ( DMD ) or Becker ( BMD ) muscular dystrophy for intragenic deletions of the DMD / BMD gene . ^^^ The correlation between phenotype and type of deletion agreed with the reading frame theory , except for two BMD and two DMD cases . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have analyzed patient DNA samples in 77 unrelated Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy families , 73 of which were of French Canadian origin . ^^^ Whether the dystrophin open reading frame ( ORF ) is maintained constrains the distribution of DMD / BMD deletions such that BMD deletions tend to be strikingly homogeneous . ^^^ Finally , the conservation of the dystrophin ORF and the severity of the clinical phenotype were concordant in 95 % of the DMD / BMD deletions documented by this work . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A diffuse reaction inside the fibers , which was not observed in normal controls , was seen in the majority of DMD and also in some of the BMD patients . ^^^ The present results suggest that it is possible to make a differential diagnosis between DMD and BMD through dystrophin immunohistochemistry . ^^^ However , to distinguish between patients with BMD and LGMD phenotypes , or DMD and outliers , complementary immunoblot studies and quantitative determination of dystrophin are necessary . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have demonstrated the feasibility of this novel strategy by characterizing a mutation in the 10 chromosomal Duchenne ( or Becker ) muscular dystrophy ( DMD / BMD ) gene encoding dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have demonstrated expression of a 6 . 3 kb Becker muscular dystrophy ( BMD ) human dystrophin cDNA following retroviral mediated transduction of cultured myoblasts from the dystrophin deficient mdx mouse . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Knowledge about the parental origin of new mutations and the occurrence of germline mosaicism is important for estimating recurrence risks in Duchenne ( DMD ) and Becker muscular dystrophy ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Twenty patients with Becker muscular dystrophy ( BMD ) , confirmed by dystrophin tests , were studied histologically . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We classified patients with PMD clinically , electrophysiologically , molecular biologically and immunohistochemically with antidystrophin antibody , especially for sporadic cases of DMD , Becker muscular dystrophy ( BMD ) and limb girdle muscular dystrophy ( LG ) . ^^^ The prevalence for all PMD in Okinawa was 7 . 13 10 10 ( 5 ) for DMD , 1 . 82 10 10 ( 5 ) for BMD in the male population , 1 . 55 10 10 ( 5 ) for LG , 1 . 14 10 10 ( 5 ) for congenital muscular dystrophy , 2 . 03 10 10 ( 5 ) for facioscapulohumeral muscular dystrophy ( FSH ) , and 9 . 13 10 10 ( 5 ) for myotonic dystrophy ( MD ) in the total population . ^^^ The incidence of DMD in the period 1957 1985 was 15 . 41 10 10 ( 5 ) live born males ( LBM ) and 3 . 21 10 10 ( 5 ) LBM for BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have identified 7 patients with Becker muscular dystrophy ( BMD ) in whom analysis of dystrophin by immunoblotting shows a full sized molecule produced at reduced abundance compared with controls . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The genetic defects responsible for the allelic disorders of BMD and the more severe DMD have been shown to be mutations within the dystrophin gene , which encodes a 14 kb transcript . ^^^ We describe here a BMD patient who belongs to a small class of subjects with large in frame deletions of the dystrophin gene that remove apparently dispensable coding sequence , thereby producing functional truncated dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Polymerase chain reaction ( PCR ) based diagnosis was carried out in 62 patients ( 57 probands ) with Duchenne or Becker muscular dystrophy ( DMD or BMD ) and 226 members in 57 families . ^^^ Thus , the PCR study and the primers used in the present study are useful and convincing for rapid diagnosis of DMD and / or BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In order to investigate if the same apparent decrease in dystrophin negative fibers with aging observed in mouse mdx female heterozygotes also occurs in carriers of the DMD and BMD gene , we have studied the muscle of 29 DMD carriers ( 19 adults and 10 young daughters of obligate carriers , including 3 manifesting carriers ) and 5 adult asymptomatic heterozygotes for Becker dystrophy ( BMD ) . ^^^ All young DMD possible carriers and 11 of 24 adult DMB / BMD heterozygotes had increased serum enzymes activities . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The diagnosis of BMD was made by DNA analysis which detected a deletion at Xp 21 and by immunoelectrophoresis and immunohistochemical tests that identified an abnormal form of gene product , dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Fifty unrelated Japanese patients with Duchenne and Becker muscular dystrophy ( DMD and BMD ) have been studied through use of the dystrophin cDNA probes . ^^^ These corresponded to 50 % ( 11 / 22 ) of BMD patients and 32 . 1 % ( 9 / 28 ) of DMD patients , and the position and extent of deletions were mapped and proven to be more heterogeneous in DMD than in BMD . ^^^ The phenotypic specific deletion in Japanese BMD patients existed in the 5 ' end of the DMD gene , although an apparently similar deletion produced a wide range of clinical courses ( BMD phenotype ) . ^^^ Three out of eight females in DMD / BMD families were diagnosed as carriers through use of the junctional fragment and dosage analyses of dystrophin cDNA . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The differential clinical diagnosis between the 10 linked muscular dystrophies ( DMD and BMD ) and autosomal recessive limb girdle muscular dystrophy ( LGMD ) , which is extremely important for genetic counseling , may be very difficult . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The most frequent causes for the 10 linked muscular dystrophy of the allelic Duchenne ( DMD ) or Becker ( BMD ) type are partial deletions of the dystrophin gene . ^^^ As a rule , the reading frame is destroyed in the more severe DMD , whereas it is preserved in the less severe BMD ( M . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In immunoblotting , PDRP stained a band with a similar molecular weight to dystrophin in samples from DMD and Becker muscular dystrophy ( BMD ) patients and control ( non DMD / BMD ) human . ^^^ In fact , PDRP did not cross react with dystrophin present in a BMD patient . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is the gene product of the Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy gene locus on the short arm of the 10 chromosome . ^^^ Complete lack of dystrophin is pathognomonic for DMD and variable changes of the molecule may be observed in the milder allelic form of BMD . ^^^ A total of 95 patients with DMD or BMD were investigated including two female patients . ^^^ Dystrophin assessment revealed abnormal abundance and / or distribution in all 95 patients with DMD or BMD . ^^^ The study emphasizes the need for , and value of , dystrophin assessment in every case of suspected BMD or DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
By use of cDNA probes , molecular deletions were identified in 66 . 6 % of 42 patients with Duchenne muscular dystrophy ( DMD ) or Becker muscular dystrophy ( BMD ) . ^^^ Owing to this high deletion rate , a new strategy for detecting DMD / BMD carriers is feasible in which the polymerase chain reaction is used as an initial screen for detecting the deletions occurring in specific deletion prone exons . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The complete 14 kb cDNA for the gene causing the 10 linked recessive muscular dystrophy ( MD ) type Duchenne ( DMD ) and Becker ( BMD ) has recently been cloned and made available for deletion / duplication screening in patients . ^^^ Since clones 9 and 10 are localized telomeric to the mutation hot spot region , their polymorphisms are thought to be very helpful as flanking markers for indirect carrier detection in families with a family history of DMD / BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are allelic 10 linked progressive neuromuscular diseases . ^^^ We have collected 25 Chinese families each with at least one DMD / BMD patient for DNA analysis in the Xp 21 region . ^^^ Gene deletion and RFLP analysis are very useful in genetic counseling of Chinese DMD / BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Antibodies directed against the amino and carboxy terminal regions of dystrophin have been used to characterize 25 Duchenne muscular dystrophy ( DMD ) , two intermediate , and two Becker muscular dystrophy ( BMD ) patients . ^^^ Western blot analysis revealed an altered size ( truncated ) immunoreactive dystrophin band in 11 of the 25 DMD patients , in one of the two intermediate patients , and in both BMD patients , when immunostained with antiserum raised against the amino terminus of dystrophin . ^^^ Quantitative studies indicated that the relative abundance of dystrophin in patients with a severe ( DMD ) , intermediate , or mild ( BMD ) phenotype may overlap , therefore suggesting that differential diagnosis of disease severity based entirely on dystrophin quantitation may be unsatisfactory . ^^^ Our results suggest that a differential diagnosis between DMD and BMD would benefit from examination of both the N terminus and C terminus of the protein , in addition to measurements of the relative abundance of the protein . . ^^^ In contrast , dystrophin was detected in both BMD patients by the antiserum specific for the carboxy terminus . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
It has been reported that immunofluorescent labelling of dystrophin in muscle from patients with Becker muscular dystrophy ( BMD ) is invariably patchy or discontinuous . ^^^ This observation has led to the suggestion that BMD dystrophin molecules , which are usually smaller than normal due to the presence of `` in frame ' ' gene deletions , can not be assembled into a complete lattice network under the plasma membrane and instead form isolated patches . ^^^ We have therefore compared immunofluorescence and immunoperoxidase labelling patterns on sets of serial sections from 6 BMD patients using a monoclonal antibody to dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Becker muscular dystrophy ( BMD ) often results from in frame mutations of the dystrophin gene that allow production of an altered but partially functional protein . ^^^ Eighty six percent of BMD patients with dystrophin of altered size have deletions or duplications , and the observed sizes of dystrophin fit well with predictions based on DNA data . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The DMD gene product , `` dystrophin ' ' , is absent from DMD , while the allelic disease , Becker muscular dystrophy ( BMD ) , exhibits dystrophin of abnormal size and / or quantity . ^^^ But we are still uncertain about the scenario that internally deleted ( or duplicated ) dystrophin in BMD possesses its carboxy ( C ) terminal region , and severely truncated dystrophin in DMD does not . ^^^ Here we use a new monoclonal antibody directed against an peptide in the C terminal end of the dystrophin molecule to show that the C terminus is preserved in 30 BMD and 24 control skeletal muscles but not in 21 DMD specimens . ^^^ This result , taken together with data on deletions of the dystrophin gene , emphasizes both the diagnostic and biological importance of the C terminal domain which is required for proper function and stability of dystrophin , and substantiates the validity of the reading frame hypothesis for DMD versus BMD deletions on a biochemical level . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The gene for Duchenne ( DMD ) and Becker ( BMD ) types of muscular dystrophy has been isolated by Kunkel ' s and Worton ' s groups and shown to be the largest one over known in human , spanning more than 65 exons distributed over 2 , 500 kb in P 21 region of 10 chromosome . ^^^ BMD , which is thought to be allelic to DMD , revealed a faint or patchy immunostaining along with the abnormal and / or lower amount of dystrophin . ^^^ In BMD , there is an intimate connection between the amount of dystrophin and the severity of the clinical course . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have analysed 38 DMD patients from 34 families and 30 BMD patients from 12 families using the cDNA probes Cf23a and Cf56a , which map near the centre of the dystrophin gene , and Cf 115 , which is close to the 3 ' end of this gene . ^^^ Together , probes Cf23a and Cf56a detected deletions in 50 % of the DMD families and 33 % of the BMD families . ^^^ Most of the DMD deletions could be detected with Cf56a while all four BMD deletions were detected with Cf23a . ^^^ A higher frequency of deletions was observed in sporadic ( 73 % ) compared with familial DMD ( 28 % ) and BMD cases ( 33 % ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Serum creatine kinase ( CK ) and pyruvate kinase ( PK ) activities in Duchenne ( DMD ) as compared with Becker ( BMD ) muscular dystrophy . ^^^ Serum creatine kinase ( CK ) activities were determined in 536 patients affected with 10 linked muscular dystrophy ( 456 with Duchenne or DMD and 80 with Becker or BMD ) and serum pyruvate kinase ( PK ) in 360 among them ( 309 DMD and 51 BMD ) . ^^^ The aim of this investigation was to assess the variability and rate of decrease in serum activity in DMD as compared with BMD as a function of age and in DMD as a function of Vignos scale as well . ^^^ If maximum levels of serum enzyme reflect active muscle degeneration and the rate of decline per year to progressive loss of muscle mass ( responsible for the release of muscle enzymes to the blood stream ) our observations suggest : ( a ) active muscle degeneration occurs , on average , 5 years later in the group of outliers and 10 years later in BMD as compared with severe DMD ; ( b ) the rate in which muscle mass is lost is significantly greater in DMD than in BMD and therefore serum enzyme determinations may represent an important test for evaluation of therapeutic trials ; ( c ) serum enzymes determination may represent an important preliminary test to discriminate in a proportion of young patients if they will develop a severe or milder phenotype . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A muscle biopsy from right biceps brachii disclosed the abnormal immunofluorescent staining pattern of dystrophin which is consistent with BMD patient , i . e . , `` patchy , ' ' discontinuous and faint immunoreaction at surface membrane of the fiber . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
On immunostaining of the biopsied skeletal muscle , patchy appearance of dystrophin on the surface membrane of the fiber was detected , which is consistent with BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
One hundred and thirty two Scottish families , representing the majority of currently known cases in this country with at least one living subject affected by DMD ( 110 ) or BMD ( 22 ) , were studied with a series of cDNA probes excluding the 3 ' region of the gene ( probes 10 14 ) . ^^^ Although no specific deletion patterns were apparent for DMD , the deletions found in 13 of the BMD patients all included the most proximal ( 10 kb ) fragment detected by probe 8 . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Approximately 85 % of the 52 BMD and 54 DMD patients who had unequivocal labelling on blots demonstrated a protein of abnormal size . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Detection of carriers of Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) , in the deletion cases , involves calculating gene dosage from Southern blots . ^^^ After determining the quantitative conditions of the amplification reaction , we were able to identify deletions in a DMD / BMD carrier female . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Detection of 98 % of DMD / BMD gene deletions by polymerase chain reaction . ^^^ When used in conjunction with an existing primer set , these two multiplex reactions detect about 98 % of deletions in patients with Duchenne or Becker muscular dystrophy ( DMD , BMD ) . ^^^ Thus , use of these PCR based assays will allow deletion detection and prenatal diagnosis for most DMD / BMD patients in a fraction of the time required for Southern blot analysis . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Muscle dystrophin mRNAs from Duchenne ( DMD ) and Becker ( BMD ) patients with internal deletion of the DMD gene were quantitated and sequenced . ^^^ In all cases ( eight DMD and three BMD ) , truncated mature transcripts were found , and their amount was correlated to the clinical phenotype and to the reading frame . ^^^ In two BMD patients with out of frame deletions , the presence of minor in frame alternatively spliced mRNA species is congruent with the observed truncated dystrophin and the mild phenotype . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In 6 patients with dystrophin verified Becker muscular dystrophy ( BMD ) , 3 patients had dilated cardiomyopathy ( DCM group ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DMD and BMD are now understood at the genetic , biochemical , and molecular levels . ^^^ At the biochemical level , DMD results from the deficiency of a large protein called dystrophin , whereas BMD results when dystrophin is present , though abnormal in either amount or molecular structure . ^^^ Prenatal genetic diagnosis of DMD or BMD may involve use of Southern blot or PCR techniques to search for a deletion in the DNA of at risk fetuses or more complicated family linkage studies using intragenic and flanking RFLPs . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Partial gene deletion is the major cause of mutation leading to Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) . ^^^ A shift of the reading frame was predicted in four of the six DMD cases and in one of the two intermediate cases , while the reading frame remained uninterrupted in both BMD cases . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
There are 23 females known with Duchenne or Becker muscular dystrophy ( DMD or BMD ) who have 10 ; autosome translocations that disrupt the 10 chromosome within band p 21 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Thirty eight unrelated Japanese patients with Duchenne and Becker muscular dystrophy ( DMD and BMD ) have been investigated with the DMD cDNA probes . ^^^ These corresponded to 50 % ( 9 / 18 ) of BMD patients and 25 % ( 5 / 20 ) of DMD patients , and the position and extent of deletions were mapped and proved to be more heterogeneous in DMD than in BMD . ^^^ The phenotypic specific deletion in Japanese BMD patients has existed in the 5 ' end of the DMD gene , although its apparently similar deletion produced a wide range of clinical courses ( BMD phenotype ) . ^^^ There was no tight correlation between clinical severity and presence or absence of deletion in DMD or BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) , a much milder form of the disease where the age of onset can sometimes be as late as the third or fourth decade of life , are caused by mutations in the same 10 linked gene , a 14 kilobase ( kb ) transcript which is spread over more than 2 megabases of the human 10 chromosome . ^^^ Most mutations causing DMD and BMD are deletions and deletions associated with both phenotypes are observed throughout the gene sequence . ^^^ This observation led to the suggestion that DMD patients possess deletions that disrupt the reading frame of the protein , whereas BMD patients have deletions that retain the translational reading frame and enable the muscle cells to produce altered dystrophin products . ^^^ This theory is supported by immunoblotting studies , which show that DMD patients lack dystrophin in their muscle cells or that dystrophin is present at very low levels , whereas BMD patients produce a protein with reduced abundance or abnormal size . ^^^ Here we describe a deletion of the dystrophin gene in a family segregating for very mild BMD , one member of which was still ambulant at age 61 years , which removes a central part of the dystrophin gene encompassing 5 , 106 base pairs of coding sequence , almost half the coding information . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
About 60 % of both Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) is due to deletions of the dystrophin gene . ^^^ For cases with a deletion mutation , the `` reading frame ' ' hypothesis predicts that BMD patients produce a semifunctional , internally deleted dystrophin protein , whereas DMD patients produce a severely truncated protein that would be unstable . ^^^ To test the validity of this theory , we analyzed 258 independent deletions at the DMD / BMD locus . ^^^ The distribution and frequency of deletions spanning the entire locus suggests that many `` in frame ' ' deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non DMD / non BMD clinical features . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and its less severe allele Becker muscular dystrophy ( BMD ) are progressive muscle wasting disorders of children . ^^^ As the normal function of dystrophin is determined , more accurate clinical diagnosis of DMD and BMD should result and potential approaches to therapy should be designed . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
This study consisted of 1 ) molecular deletion analyses in patients with Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) using the entire cDNA for the DMD gene as hybridization probes , 2 ) RFLP analyses in a large number of Japanese normal women using 11 DMD linked cloned DNAs as probes , and 3 ) segregation analyses with these RFLP data in 17 DMD families in which prenatal or carrier diagnosis was required . ^^^ The deletion study showed that 18 ( 43 % ) of 42 male DMD patients had a deletion within the DMD gene , while no detectable deletion was found in 3 BMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Cloned cDNA sequences representing exons from the Duchenne / Becker muscular dystrophy ( DMD / BMD ) gene were used for deletion screening in a population of 287 males males affected with DMD or BMD . ^^^ Boys in group 1 had DMD , losing ambulation before their 13th birthday ; those in group 2 had disease of intermediate severity , losing ambulation between the ages of 13 and 16 years ; and boys in group 3 had BMD , being ambulant beyond 16 years . ^^^ Deletion of exons containing HindIII fragments 33 and 34 and 33 to 35 were associated with BMD and were not found in patients with DMD . ^^^ The range of phenotypes observed , and the overlap at the genetic level between severe and intermediate and mild and intermediate forms of dystrophy , emphasizes the essential continuity of the clinical spectrum of DMD / BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have studied 30 French patients with 10 linked muscular dystrophy of the Duchenne ( DMD ) and Becker ( BMD ) types for intragenic deletions , using the cDNA probes of the DMD / BMD gene . ^^^ In our limited sample , BMD was caused by deletions in the 5 ' end of the gene , and in two instances of DMD , deletions of similar types resulted in diseases of similar severity . ^^^ We conclude that cDNA hybridization studies provide a powerful diagnostic tool in DMD and BMD families . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Eighty unrelated individuals with Duchenne muscular dystrophy ( DMD ) or Becker muscular dystrophy ( BMD ) were found to have deletions in the major deletion rich region of the DMD locus . ^^^ Thirty eight independent patients were old enough to be classified as DMD , BMD , or intermediate phenotype and had deletions of exons with sequenced intron / exon boundaries . ^^^ Of these , eight BMD patients and one intermediate patient had gene deletions predicted to leave the reading frame intact , while 21 DMD patients , 7 intermediate patients , and 1 BMD patient had gene deletions predicted to disrupt the reading frame . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Thirty three patients with BMD or LGD ( thirty isolated and three with an affected brother ) were screened with a panel of cDNA probes for the whole dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Comparison of the plasma membrane binding of five lectins with overlapping sugar specificities in skeletal muscle from patients with DMD and the allelic milder disease form , Becker muscular dystrophy ( BMD ) showed that the RCA 1 binding glycoprotein also strongly binds to phytohaemagglutinin , thereby largely characterising the carbohydrate binding site . ^^^ This glycoprotein was absent or altered in DMD and markedly reduced in clinically manifest BMD but present in preclinical clinical BMD . ^^^ The possible implications of these findings for the pathogenesis of DMD / BMD are discussed . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are two allelic forms of an 10 linked muscle disorder exhibiting phenotypic heterogeneity . ^^^ We studied 49 individuals clinically diagnosed as having classic DMD , female DMD , mild DMD `` outliers , ' ' and BMD . ^^^ Seven of 11 patients with a mild DMD or BMD phenotype showed deletions at the 5 ' end of the gene . ^^^ Contrary to a previous report , no patient in the population of clinically precisely defined DMD boys showed a deletion at the 5 ' end ; thus , the outlier and BMD patients may be genetically different from boys with classic DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To gain further information relating to the frequency , position and size of DNA deletions in the Duchenne / Becker muscular dystrophy ( D / BMD ) gene region , and to detect any correlation of these deletions with phenotype , a large clinic based population of DMD and BMD patients has been investigated using 13 cloned intragenic sequences . ^^^ These represented 25 . 6 % ( 55 / 215 ) of DMD patients and 41 . 7 % ( 20 / 48 ) of BMD patients , suggesting that the milder phenotype is more often likely to be due to a deletion . ^^^ The distribution of deletions across the gene region shows at least one region ( detected by P 20 ) prone to deletion mutations in both DMD and BMD patients . ^^^ There is no simple correlation of position or extent of deletions with DMD or BMD , although deletion of a specific region towards the 5 ' end of the gene may be more often associated with a milder phenotype . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In the course of a systematic survey of DMD and BMD patients with intronic probes and with cDNA probes covering three fourths of the coding sequence , 45 molecular deletions within the DMD gene were investigated . ^^^ The reading frame was checked in 11 cases with proximal deletions and found to be disrupted in 6 of 7 DMD patients , in 1 intermediate case , and , unexpectedly , in 3 BMD patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is the recently discovered defective gene product in Duchenne and Becker muscular dystrophy ( DMD and BMD ) . ^^^ Using 5 ' and 3 ' primers , dystrophin transcripts can be detected in both DMD and BMD muscle biopsies , on either side of defined deletions within the dystrophin gene . . ^^^ Dystrophin is the recently discovered defective gene product in Duchenne and Becker muscular dystrophy ( DMD and BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The analysis of DNA from patients suffering from Duchenne ( DMD ) and Becker ( BMD ) muscular distrophies has resulted in the identification of a single gene locus for these diseases . ^^^ This paper examines the location of deletion breakpoints in DMD and BMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Estimating carrier risks for female relatives of Duchenne ( DMD ) and Becker ( BMD ) dystrophy sufferers depends upon calculation of segregational risks , supplemented by enzyme tests which show considerable overlap between carrier and control data . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Through a process that has come to be known as reverse genetics , the gene and gene product involved in Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) have been identified . ^^^ The DMD / BMD gene is over 2 million base pairs in size and over 50 % of DMD / BMD patients harbor submicroscopic deletions for portions of the gene . ^^^ The protein is absent or altered in DMD / BMD patient muscle . ^^^ The normal function of dystrophin and the reasons why its alteration results in the DMD / BMD phenotypes are presently unknown . ^^^ The discoveries to date , however , provide a starting point for investigating the fundamental pathogenetic mechanisms involved in DMD / BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Only recently has the basic defect in DMD and BMD been recognized : a region on the human 10 chromosome is disrupted by mutation . ^^^ The molecular genetic identification of this protein via analysis of mutations found in patients ' material has led to a means of improved diagnosis of DMD / BMD in affected individuals and their family members . ^^^ The severely affected DMD patients have little or no detectable dystrophin in their muscle , whereas BMD patients have nearly normal concentrations of an altered form of dystrophin ; patients with all other neuromuscular diseases have normal dystrophin . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Here we report the immunoreactivity on blots and on unfixed frozen sections of muscle from patients with Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy . ^^^ Muscle from 3 BMD patients showed variation both in the band pattern observed on blots and in the immunocytochemical labelling of dystrophin on frozen sections . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In normal controls and in patients with various neuromuscular diseases other than DMD and Becker ' s muscular dystrophy ( BMD ) , dystrophin was detected homogeneously on the entire surface membrane of the muscle fibers , whereas it was absent in DMD patients and partially observed in BMD cases . ^^^ The density of dystrophin was low in BMD and female DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The dystrophin cDNA probes showed no deletion of DMD / BMD gene . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DNA from 80 Duchenne ( DMD ) and 15 Becker ( BMD ) index patients was analyzed with 12 genomic probes and the total cDNA . ^^^ Deletions were detected in 24 DMD ( 30 % ) and 10 BMD patients ( 67 % ) by genomic probes alone , mostly p 20 , pXJ , and / or pERT 87 . ^^^ The deletion patterns in DMD and BMD patients are different and well in accordance with the `` reading frame theory ' ' of Monaco and coworkers . ^^^ Thus our findings indicate that a DMD or BMD phenotype may be predicted according to the breakpoint position and the number of deleted exons . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and Becker muscular dystrophy ( DMD and BMD ) genes are located in Xp 21 on the short arm of the 10 chromosome . ^^^ DMD patients display a much more severe clinical course than BMD patients , and yet about 10 % of cases of each have been reported to have deletions for parts of the gene . ^^^ Using a complementary DNA subclone of the DMD gene we have screened 66 DMD and BMD patients who had not previously shown deletions with the probes then available . ^^^ Exons were deleted in five severely affected DMD patients and in ten BMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The XJ markers increase the proportion of DMD and BMD families that are informative for carrier detection and prenatal diagnosis , but in view of the risk of recombination they must be used with caution . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To date we have analysed members of 28 DMD families ( 10 familial , 18 sporadic ) and six BMD families ( four familial , two sporadic ) with the closely linked pERT probes 87 1 , 87 8 , and 87 15 ( DXS 164 ) . ^^^ With the aim of offering carrier detection , genetic counselling , and prenatal diagnosis to as many families with Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy as possible , we used available DNA probes to determine the usefulness of the RFLP approach . ^^^ In one sporadic DMD family and one BMD family with three affected males the probands showed a deletion involving the three pERT 87 subclones used . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Deletions in the gene sequence for Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy were detected in affected males with four cDNA probes , Cf56a , Cf23a , Ca1A , and Cf 27 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
P 20 detects 16 % deletions in patients suffering from either DMD or Becker muscular dystrophy ( BMD ) , in sharp contrast to the adjacent intragenic markers JBir ( 7 % ) and J 66 ( less than 1 % ) , mapping respectively 200 320 kb proximal and 380 500 kb distal to P 20 . ^^^ Together , these properties make P 20 useful for carrier detection , prenatal diagnosis , and the study of deletion induction in both DMD and BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Intragenic deletions in 21 Duchenne muscular dystrophy ( DMD ) / Becker muscular dystrophy ( BMD ) families studied with the dystrophin cDNA : location of breakpoints on HindIII and BglII exon containing fragment maps , meiotic and mitotic origin of the mutations . ^^^ Following the strategy outlined in an accompanying paper , we studied 32 10 linked muscular dystrophy families ( 29 Duchenne [ DMD ] and three Becker [ BMD ] type ) for abnormalities of HindIII and BglII fragments detected by the entire dystrophin cDNA . ^^^ As evidence is accumulating for frequent mitotic origin of these deletion mutations , this phenomenon has to be considered when postulating mutational mechanisms and in genetic counseling of DMD / BMD families . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
There are over 20 females with Duchenne or Becker muscular dystrophy ( DMD or BMD ) who have 10 autosome translocations that break the 10 chromosome within band Xp 21 . ^^^ A t ( 10 ; 21 ) translocation in a patient with BMD and a t ( 10 ; 1 ) translocation in a patient with DMD were found to break within a large 110 kb intron between exons 7 and 8 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Two cDNA probes , cf23a and cf56a , identify deletions of selected exons in about 50 % of our DMD / BMD patients . ^^^ This result shows that with the use of cDNA probes detecting deletions , the only risk of error in genomic prenatal diagnosis is the general high frequency of new mutations for DMD / BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Normal muscle fibres expressed no detectable class 1 antigens , whereas muscle fibres of patients with inflammatory myopathies and Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy showed consistently strong expression . ^^^ No expression of class 1 antigens was observed on muscle fibres in samples from fetuses `` at risk ' ' for DMD and BMD or from female carriers of these disorders . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Of the approximately 170 families with 10 linked muscular dystrophy of the Duchenne ( DMD ) and Becker ( BMD ) type in Finland , we have studied 90 unrelated patients for intragenic deletions by using the cDNA probes described by Koenig et al . ^^^ Using a wheelchair age of 12 years to distinguish between DMD and BMD , we found that the proportions of patients with deletions were similar . ^^^ BMD was more commonly caused by deletions in the 5 ' end of the gene than was DMD . ^^^ We conclude that cDNA hybridization studies provide a powerful diagnostic tool in DMD and BMD and that they promise to produce better insights into molecular clinical correlations . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The linkage data obtained suggest that both the DMD and BMD loci are located in the same region ( p 21 ) on the short arm of the 10 chromosome at a distance of about 15 to 20 cM from the 754 locus . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The inheritance of seven restriction fragment length polymorphisms detected by DNA probes has been studied in families with Duchenne and Becker muscular dystrophies ( DMD and BMD ) . ^^^ Data obtained from DMD and BMD families have been combined to give more precise values for the different recombination fractions . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A DNA marker C 7 , localised Xp21 . 1 Xp21 . 3 , has been studied in kindreds segregating for Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) . ^^^ Studies in families also segregating for the DNA marker 754 support the previously reported physical order of these loci as 10 centromere 754 DMD BMD C 7 10 telomere . ^^^ C 7 and 754 thus provide good bridging markers for the diagnosis of DMD and BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Here we describe the combined results of more than 20 research laboratories with respect to the occurrence of deletions at the DXS 164 locus in DNA samples isolated from patients with DMD and Becker muscular dystrophy ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A set of nine polymorphic loci defined by DNA probes was studied for linkage with the disease locus in ten families with a history of Duchenne muscular dystrophy ( DMD ) , and three families with a history of Becker muscular dystrophy ( BMD ) . ^^^ The results confirm DMD and BMD linkage to all marker loci and suggest closer linkage of several probes than hitherto detected . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
This suggests that deletions in DXS 164 occur approximately as frequently in BMD as they do in DMD . ^^^ The DNA of 33 patients diagnosed as suffering from Becker muscular dystrophy ( BMD ) has been probed with cloned DNA sequences from Xp 21 , known to reveal DNA deletions in patients suffering from the more severe Duchenne muscular dystrophy ( DMD ) . ^^^ The fact that loci defined by probes commonly deleted in classical DMD patients are also deleted in BMD patients of varying severity is strong additional evidence that these disorders are allelic , and further justifies the use of probes with defined linkage relationships to DMD also being used for counselling in BMD families . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The occurrence of this deletion in DXS 164 would appear to confirm that this region is part of the BMD locus . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The resultant improvements in our understanding of the genetic basis of Becker muscular dystrophy ( BMD ) and DMD serve as models for similar investigation of other heritable disorders . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and its less severe form Becker muscular dystrophy ( BMD ) are allelic disorders . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin was also undetectable in one borderline DMD / Becker muscular dystrophy ( BMD ) case and reduced in 2 of 4 cases of BMD . ^^^ Dystrophin was also undetectable in one borderline DMD / Becker muscular dystrophy ( BMD ) case and reduced in 2 of 4 cases of BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have analysed over 300 patients suffering from Duchenne or Becker muscular dystrophy ( DMD or BMD ) . ^^^ One mildly affected BMD patient possesses a deletion of at least 110 kb including exons of the DMD gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A panel of patients with Duchenne and Becker muscular dystrophy ( DMD and BMD ) has been screened with the cDNA probes Cf56a and Cf23a , which detect exons in the central part of the DMD gene . ^^^ Deletions specific to DMD and to BMD are described . ^^^ Half of all BMD patients have a deletion of one particular small group of exons ; smaller deletions within this same group produce the more severe DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
It is important to be able to clearly differentiate between Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophies in early childhood in order to offer more accurate prognostic information to parents . ^^^ In response to this need , biopsies from BMD and DMD patients were compared to see which features , if any , allowed a differentiation to be made . ^^^ Fifteen biopsies of vastus lateralis muscle from boys with the mild ( BMD ) 10 linked muscular dystrophy were compared with 19 biopsies from patients with the severe ( DMD ) form using a variety of histochemical and morphometric parameters . ^^^ Fibre hypertrophy was initially prominent , particularly in DMD boys until 5 years of age and in BMD patients until approximately 10 years , thereafter the mean fibre sizes became smaller than normal . ^^^ Type 2B deficiency was again common in DMD as well as occurring in some BMD cases . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Results of the use of recombinant DNA techniques for the diagnosis of both forms of 10 linked muscular dystrophy , Duchenne ( DMD ) and Becker ( BMD ) , over an 18 month period , are reviewed . ^^^ In all , 97 families with DMD were investigated and four with BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The results of the DNA analysis exclude DMD , BMD and EMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and its milder form , Becker muscular dystrophy ( BMD ) , are allelic 10 linked muscle disorders in man . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A less severe disease , Becker ' s muscular dystrophy ( BMD ) , maps to the same chromosomal locus and is most probably an allelic form of DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Deletions giving rise to Duchenne muscular dystrophy ( DMD ) and the less severe Becker muscular dystrophy ( BMD ) occur in the same large gene on the short arm of the human 10 chromosome . ^^^ We present a molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The three duplication cases have been analysed with a cDNA probe isolated from the DXS 206 region of the DMD / BMD locus and the duplication of a specific set of exons has been found in two cases . ^^^ Duchenne and Becker muscular dystrophies ( DMD and BMD ) are progressive muscle wasting disorders with an 10 linked recessive mode of inheritance . ^^^ We have surveyed 120 unrelated patients with DMD or BMD for gene duplications using a series of genomic probes from within the DMD / BMD gene locus . ^^^ In three patients , two with DMD and one with BMD , a duplicated region within the DMD / BMD locus has been shown by Southern blot analysis and transmission densitometry . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Fetal muscle cDNA clones covering at least 11 . 4 kb of the Duchenne muscular dystrophy ( DMD ) gene sequence were used to identify a deletion prone region in DNA from DMD and Becker muscular dystrophy ( BMD ) patients . ^^^ Considering the whole locus , DMD and BMD are caused by a deletion of the gene sequence in at least 67 % of cases . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Haplotypes for 7 flanking and 16 `` intragenic ' ' 10 linked DNA polymorphisms were determined in 204 members of 31 families with Duchenne ( DMD ) and 27 members of 4 families with Becker type muscular dystrophy ( BMD ) and combined with CK and pedigree data to estimate carrier and fetal risks . ^^^ All of the 27 younger female relatives of the familial cases ( 8 DMD , 2 BMD ) could either be identified ( 11 ) or ruled out ( 16 ) as carriers with 95 % or higher probability . ^^^ Out of 49 possible carriers in the 23 DMD and 2 BMD families with isolated cases , 19 were classified as carriers and 18 as homozygote normal females . ^^^ The practical significance of these findings with regard to the prevention of DMD / BMD and the present diagnostic strategies are discussed . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Carrier diagnosis and prenatal diagnosis of Duchenne ' s muscular dystrophy ( DMD ) and Becker ' s muscular dystrophy ( BMD ) has become possible using some twenty RFLPs detected by more than a dozen Xp 21 probes that are either intragenic or flanking the disease locus . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To evaluate malignant hyperthermia ( MH ) susceptibility in 10 linked muscular dystrophies , halothane and caffeine contracture tests were performed on muscle fiber bundles from five patients with Duchenne muscular dystrophy ( DMD ) and two patients with Becker muscular dystrophy ( BMD ) . ^^^ Two DMD patients and one BMD patient had positive contracture tests . ^^^ Since a positive contracture test is currently the best indicator of anesthetic susceptibility in the MH population , and episodes of MH in dystrophic patients have been reported , patients with DMD and BMD may be at risk for developing similar anesthetic complications . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Epidemiological data on Becker muscular dystrophy ( BMD ) and Duchenne muscular dystrophy ( DMD ) from a large sample of the Italian population are reported . ^^^ The results are discussed in the light of possible allelism of BMD and DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Using these criteria the families from Erfurt and Warsaw could be clearly separated into classical Duchenne ( DMD ) and classical Becker ( BMD ) type patients . ^^^ Statistically highly significant differences were found between the groups of classical DMD and atypical MD cases on the one hand and between the groups of atypical MD and classical BMD cases on the other , especially with respect to age when chairbound and age at death . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Individual translocation chromosomes from six girls suffering from Duchenne or Becker muscular dystrophy ( DMD or BMD ) have been isolated in human mouse somatic cell hybrids . ^^^ Both sets of sequences mapped within the area defined by the translocation breakpoints , confirming their close proximity to the DMD and BMD loci . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Both DMD and the mild form , Becker muscular dystrophy ( BMD ) , are 10 linked . ^^^ The t ( 10 ; 21 ) translocation exchange points occurs within a large intron of 105 kb or larger , indicating that the translocation has disrupted the DMD / BMD gene to cause the disease in this patient . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The gene responsible for Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) maps to the 10 chromosome short arm , band Xp 21 . ^^^ In a few females with DMD or BMD , the Xp 21 region is disrupted by an 10 autosome translocation . ^^^ Accumulating evidence suggests that the exchange has physically disrupted the DMD / BMD locus to cause the disease . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Investigation of deletions in both DMD and Becker muscular dystrophy ( BMD ) patients shows the deletions to be present in 10 % of cases and heterogeneous . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A cloned DNA segment , DXS 164 ( or pERT 87 ) , has been shown to detect deletions in the DNA of unrelated DMD and BMD males . ^^^ Duchenne muscular dystrophy ( DMD ) and the less severe Becker muscular dystrophy ( BMD ) are human 10 linked muscle wasting disorders that have been localized to the band Xp 21 by genetic linkage analysis and cytologically detectable abnormalities . ^^^ These expressed sequences are candidates for portions of the gene responsible for both DMD and BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Serum pyruvate kinase ( PK ) and creatine kinase ( CK ) determinations have been carried out in a sample of 100 obligate carriers for the Duchenne muscular dystrophy ( DMD ) gene , 23 obligate carriers for the Becker muscular dystrophy ( BMD ) gene , and 50 normal adult control women . ^^^ It is concluded that , although a proportion of carries still remains undetected , the use of serum PK determinations enhances the capability of detecting carriers of both DMD and BMD mainly when compared with serum CK alone . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We studied the histochemical staining and biochemical activity of AMP deaminase in biopsied muscle in Becker type muscular dystrophy ( BMD ) , Fukuyama type congenital muscular dystrophy ( FCMD ) , Duchenne type muscular dystrophy ( DMD ) , Werdnig Hoffmann disease ( WH ) in order to elucidate the change of AMP deaminase activity in muscle with neuromuscular disorders in childhood . ^^^ The intensity of AMP deaminase staining did not decrease in BMD with mild pathologic change , but in DMD , FCMD and WH it decreased in parallel with the severity of the pathologic change . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Sixteen three generation families from the West of Scotland with Duchenne muscular dystrophy ( DMD ) or Becker muscular dystrophy ( BMD ) have been studied using the Xg blood group and seven cloned DNA sequences which recognise DNA polymorphisms on the short arm of the 10 chromosome ( Xp ) . ^^^ Combining the data in this study with that of previously published work has established linkage between DMD and L1 . 28 ( Z = 4 . 42 , theta = 0 . 17 ) and altered the linkage estimate between BMD and L1 . 28 ( Z = 3 . 50 , theta = 0 . 22 ) . ^^^ The proposed order is centromere L1 . 28 754 DMD / BMD 99 6 D 2 782 Xg . ^^^ These results conclusively map both DMD and BMD to the central region of Xp and add weight to the original suggestion that they may be allelic . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Serum creatine kinase ( CK ) isoenzyme MB was measured in 53 patients affected by different types of myopathies ( 20 with Duchenne muscular dystrophy ( DMD ) , eight with the Becker form ( BMD ) , ten with the limb girdle form ( LGMD ) , six with the facioscapulohumeral form ( FSH ) , and nine affected by polymyositis and in 21 normal control subjects ) . ^^^ When the different groups of patients were compared among themselves , no significant difference was found between DMD and BMD or LGMD and polymyositis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The existence of linkage has been investigated between the Xg blood group system , two DNA restriction fragment length polymorphisms ( RFLPs ) located on the short arm of the 10 chromosome , Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) . ^^^ Analyses of 11 families with DMD and ten with BMD , informative for the Xg blood group , reinforce the conclusions of others that there is no measurable linkage between the loci for Xg and for the 10 linked forms of muscular dystrophy . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The mean incidence rate was 21 . 7 per 100 , 000 male livebirths for Duchenne muscular dystrophy ( DMD ) cases and 3 . 2 per 100 , 000 male livebirths for Becker muscular dystrophy ( BMD ) cases . ^^^ The familial cases were 38 . 5 % among the DMD patients and 50 % among the BMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Elevated levels of serum myoglobin ( MGB ) were found in patients with several types of myopathic disorders , namely , Duchenne muscular dystrophy ( DMD ) , Becker muscular dystrophy ( BMD ) , facioscapulohumeral dystrophy , and limb girdle dystrophy . ^^^ The frequency of hypermyoglobinemia was greatest in patients with DMD and BMD ( 91 . 7 % and 100 % , respectively ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The Becker ' s Muscular Dystrophy ( BMD ) is a disease with similar aspect and distribution to the Duchenne Muscular Dystrophy ( DMD ) , although it is usually less severe . ^^^ Thirty eight patients were studied ; 16 with BMD and 22 with DMD . ^^^ The age of symptomatology onset was 10 . 5 + / 7 . 2 years in BMD and 2 . 3 + / 13 years in DMD showing an overlapping of 18 . 42 % of DMD and DMB at the age of 4 , this overlapping difficult the precise diagnosis between both diseases . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
It has been hypothesized that all BMD patients would have dystrophin alterations and dystrophin analysis could identify the Xp 21 MD . ^^^ In order to assess the accuracy of dystrophin quantification test in delineating Becker patients , we analyzed dystrophin abundance in BMD patients with a positive history of 10 linked inheritance and no DNA detectable mutation , as compared to patients from families with LGMD . ^^^ We observed that patients from 2 among the 5 BMD families have nearly normal dystrophin , while alteration in dystrophin content was observed in patients from 2 among the 7 LGMD families studied ( probably as a secondary effect of alteration in the whole dystrophin glycoproteins complex ) . ^^^ These results suggest that dystrophin quantification , as an isolated test is not helpful for differential diagnosis between BMD and LGMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Using single strand conformation analysis of products amplified by polymerase chain reaction ( PCR SSCA ) to screen the terminal domains of the dystrophin gene ( exons 60 79 ) of 20 unrelated patients with DMD or BMD , we detected two novel point mutations in two mentally retarded DMD patients : a 1 bp deletion in exon 70 ( 10334delC ) and a 5 ' splice donor site alteration in intron 69 ( 10294 + 1G > T ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and Becker muscular dystrophies ( DMD and BMD ) are caused by defects in the dystrophin gene . ^^^ The study indicates that many of the DMD and the majority of the BMD small mutations lie in noncoding regions of the gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To evaluate the usefulness of this assay for carrier detection , a comparative study of serum PK and CPK activity was performed in 74 female relatives of patients affected with Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophies . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin gene deletions account for up to 68 % of all Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy mutations . ^^^ Using this approach , we determined DMD / BMD carrier status in 24 unrelated families using a fluorescent fragment analyzer . ^^^ Dystrophin gene deletions account for up to 68 % of all Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy mutations . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and Becker muscular dystrophies ( DMD and BMD ) are severe and mild phenotypes , respectively , of the mutated dystrophin gene . ^^^ Based on the frameshift theory , an out of frame deletion causes DMD , while an in frame deletion causes BMD . ^^^ Using this method , thirty three DMD / BMD patients with a deletion mutation in the central region of the dystrophin gene were examined . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A genetic service for Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) was initiated in Cape Town in 1987 . ^^^ Overall minimum prevalence rates of 1 / 100 , 000 for DMD and 1 / 755 , 000 for BMD were calculated . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy are allelic 10 linked recessive diseases caused by a mutation in the dystrophin gene located on the short arm of chromosome 10 ( Xp 21 ) . ^^^ The frequency of DMD is 1 : 3500 liveborn males , and that of BMD 1 : 10000 . ^^^ BMD / DMD patients and 2 / 3 of female carriers have high levels of creatine phosphokinase ( CK ) . ^^^ We were able to exclude the diagnosis of DMD / BMD in 49 families on the basis of clinical symptoms and signs , normal dystrophin on biopsy ( 11 families ) and / or the absence of linkage to chromosome 10 by analysis of RFLP derived haplotypes . ^^^ Molecular analysis was performed on 111 DMD / BMD families ( five BMD and 106 DMD ) with 81 available probands . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study . ^^^ The results of a collaborative study involving about one third of the total DMD and BMD cases living in the Italian territory are reported . ^^^ The analysis of the breakpoint frequency by intron revealed significant differences among regional groups of DMD patients ( for introns 2 , 11 and 50 in Sardinia and for introns 9 and 45 in northeastern Italy ) , whereas no regional differences were observed among regional groups of BMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Skeletal muscle CT scans were performed in patients with Duchenne ( DMD ) as well as Becker muscular dystrophy ( BMD ) in the preclinical or early clinical stage , at the levels of the 3rd lumbar vertebra , the mid thigh , and the maximum circumference of the calf . ^^^ In BMD , the atrophic change was extremely slight , and the CT numbers of the muscles were higher than the corresponding values for DMD in the same age group . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin tests confirmed a clinical diagnosis of BMD in the patient , i . e . faint and patchy immunostaining pattern of skeletal muscle , truncated dystrophin protein and a deletion of exons 3 and 4 of the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Partial deletions of the dystrophin gene are the predominant genetic lesions in Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophies . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In Becker muscular dystrophy ( BMD ) , there is a variable dystrophin staining pattern . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although earlier studies were limited to gross rearrangement mutations , we are now in a position to draw lessons on the molecular etiology of the remaining one third of cases of Duchenne and Becker muscular dystrophy ( DMD , BMD ) which are associated with small mutations . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The dystrophin gene was examined by PCR analysis in 30 Japanese patients with Becker muscular dystrophy ( BMD ) . ^^^ Immunoblotting studies demonstrated dystrophin of low molecular mass and quantity in BMD patients with deletion mutations , while a low quantity of dystrophin with an apparent wild type molecular mass was observed in nearly half the BMD patients without detectable deletions . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The subjects with normal heart showed deletions including exons 48 49 in 21 . 4 % DMD and in 25 % BMD , and other deletions in 35 . 7 % DMD and 25 % BMD ; vice versa the cases with severe cardiac involvement showed deletions including 48 49 in 38 . 8 % DMD and 37 . 5 % BMD and other deletions in 32 . 9 % DMD and 20 % BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We performed dystrophin testing for a 5 year old boy and confirmed he had severe BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and Becker muscular dystrophy ( DMD / BMD ) are allelic variants caused by mutations in gene encoding dystrophin . ^^^ Immunohistochemical assessment of dystrophin in four patients with BMD and cardiomyopathy showed a variable distributions of myocytes with continuous , discontinuous , or absent membrane immunostaining patterns . ^^^ We conclude that the discontinuous immunostaining pattern of cardiac dystrophin is characteristic of BMD and that an absent pattern may be associated with more severe cardiac dysfunction . ^^^ Because genetic analysis can not determine the correct diagnosis in 35 % of DMD / BMD cases , we recommend routine examination of immunostaining patterns of dystrophin in endomyocardial biopsy specimens in patients with cardiomyopathy suspected to be the result of BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A benign Becker muscular dystrophy ( BMD ) patient with a marked decrease in dystrophin exhibited remarkable expression of dystrophin related protein ( DRP ) on most of the muscle cell membrane . ^^^ Increased DRP expression might compensate for a lack of dystrophin in some BMD patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Immunostaining of biopsied skeletal muscle of 4 Duchenne ( DMD ) , 12 Becker muscular dystrophy ( BMD ) and 3 DMD carriers ' was performed using monoclonal antibodies against dystrophin and utrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The largest in frame deletion in the dystrophin gene previously reported in a BMD patient encompasses exons 17 to 48 , which corresponds to 46 % of the coding region . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is a muscle cytoskeletal protein with a molecular mass ( MM ) of approximately 420 kDa and an isoelectric point ( pI ) of approximately 5 . 5 , which is abnormal in size and / or abundance in Becker muscular dystrophy ( BMD ) . ^^^ We investigated the abnormality of dystrophin molecule in muscles biopsied from 23 BMD patients using the two dimensional gel electrophoresis ( TDGE ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Methods of molecular genetics ( Southern ' s hybridization and DNA amplification by the PCR method ) were used to search the DNA of patients suffering from the Duchenne ( DMD ) and the Becker ( BMD ) type of progressive muscular dystrophy for deletions in the dystrophin gene . ^^^ The series consisted of 29 patients with DMD and 2 patients with BMD . ^^^ The high proportion of deletions in the etiology of DMD / BMD has both a high differential diagnostic value and allows to make direct prenatal diagnosis as well as to determine transmission in these families with subsequent elimination of the risk of diagnostic error resulting from recombination in DNA diagnosis by means of binding . ( Tab . 1 , Fig . 2 , Ref . 20 . ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A similar situation except regenerating fibres was found in myositis and progressive muscular dystrophies different from Duchenne ( DMD ) and Becker ( BMD ) types , DMD cases showed a complete or nearly complete loss of sarcolemmal reaction product , whereas a partial loss of dystrophin in membrane was found in BMD cases as well as in transmitter females . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We conclude that the absence of dystrophin and spectrin labeling in some BMD myofibers is associated with regeneration , probably due to incomplete expression of dystrophin secondary to myofibers immaturity . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Genetic analysis of 60 Duchenne muscular dystrophy ( DMD ) or Becker muscular dystrophy ( BMD ) patients using dystrophin cDNA ] . ^^^ We have studied 60 unrelated Chinese Duchenne muscular dystrophy ( DMD ) or Becker muscular dystrophy ( BMD ) patients using dystrophin cDNA . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Screening of deletions and RFLP analysis in Turkish DMD / BMD families by PCR . ^^^ We have screened 76 DMD and 5 BMD patients for deletions , using two separate Multiplex gene amplification systems . ^^^ PCR based techniques to screen the pERT87 . 15 / XmnI , pERT87 . 15 / BamHI , and pERT87 . 8 / TaqI polymorphisms were used for linkage analysis in the Turkish DMD / BMD families , and approximately 70 % of the mothers at risk were found to be informative for at least one of these polymorphisms studied . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Multiplex PCR analysis of the genomic DNA extracted from peripheral blood lymphocytes disclosed a deletion of exons 45 47 of the dystrophin gene , confirming a diagnosis of Becker muscular dystrophy ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We report here a family in which the proband , who is currently 15 years old , is showing a severe DMD progression , while his affected maternal uncle , aged 29 , has a more benign course , compatible with BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Thirty four cases of DMD and 7 cases of BMD , based on their clinical manifestations , were examined . ^^^ The results from multiplex PCR showed that 15 cases ( 37 % ) , 11 DMD and 4 BMD , proved to have deletions in the exons studied ; 1 located at exons 6 and 8 , 1 at exon 8 , 1 at exons 8 , 13 and 17 , 1 at exons 13 and 17 , 1 at exon 17 , 3 at exon 43 , 1 at exon 50 , and 3 at exons 50 and 52 , after false negatives were excluded . ^^^ No difference in size or location was noticed between DMD and BMD in the sample limited result . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
If this is the case , it may be possible to modify the regulation of utrophin expression as an alternative route to dystrophin gene therapy for sufferers of DMD and / or BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Patients with Becker muscular dystrophy ( BMD ) have milder muscular impairment and better prognosis than patients with Duchenne muscular dystrophy ( DMD ) . ^^^ Another difference is that while cardiac failure due to myocardial involvement is a frequent cause of death in BMD , respiratory failure is the most common cause of death in DMD . ^^^ The ratio of ejection time to pre ejection period ( ET / PEP ) decreased to 2 . 0 3 . 3 in BMD , and was significantly lower than that in DMD patients with comparable muscle weakness . ^^^ Diagnosis of BMD was made by characteristic symptoms , dystrophic change in muscle histology , and the followings : 1 ) a deletion in the dystrophin gene , 2 ) `` patchy ' ' staining of dystrophin on immunocytochemical analysis , 3 ) abnormal dystrophin size on Western blotting , and 4 ) presence of a definite carrier in the family . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Immunocytochemically , five of the 30 LGMD patients ( 17 % ) showed abnormal dystrophin staining patterns diagnostic of BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and Becker muscular dystrophies ( DMD and BMD ) are allelic 10 linked disorders arising from mutations in the ( 2 . 4 Mb ) dystrophin gene at Xp 21 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We studied beta spectrin using an immunologic probe in muscle samples from patients with Duchenne muscular dystrophy ( DMD ) , Becker muscular dystrophy ( BMD ) , other disease controls , and normal controls . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
These included 249 cases of Duchenne muscular dystrophy ( DMD ) , 3 Becker muscular dystrophies ( BMD ) , 14 limb girdle muscular dystrophies ( LGMD ) , 3 fascioscapulohumeral muscular dystrophies ( FSH ) , 18 Fukuyama type congenital muscular dystrophies ( FCMD ) and 17 myotonic dystrophies ( MyD ) . ^^^ Myocardial fibrosis was observed in most of the patients with DMD , BMD , LGMD , FCMD and MyD . ^^^ The distribution of cardiac lesions was similar in BMD , LGMD and FCMD as in DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We examined muscle biopsies from patients with Duchenne muscular dystrophy ( DMD : 39 patients ) and Becker muscular dystrophy ( BMD : 11 patients ) , female DMD carriers ( 4 patients ) , and control subjects ( 26 persons ) for the expression of dystrophin and utrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DNA was isolated and analysed in 96 patients with Duchenne or Becker muscular dystrophy ( DMD , BMD ) ; 9 of them were affected with BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The patients included 64 males and 11 females and the clinical diagnoses were Duchenne MD ( DMD ) ( 41 ) , Becker MD ( BMD ) ( 8 ) , intermediate / outlier MD ( 4 ) , female DMD ( 3 ) , limb girdle or Becker ( 1 ) , congenital MD ( CMD ) ( 10 ) , Fukuyama CMD ( 1 ) , facioscapulohumeral MD ( FSH ) ( 3 ) , limb girdle MD ( 2 ) , and other uncharacterized dystrophies ( 2 ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The aim of this study was to identify point mutations in patients with Duchenne or Becker muscular dystrophy ( DMD or BMD ) who have no gross DNA rearrangements detectable by Southern blot analysis or multiplex exon amplification . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Characterization with a panel of six antibodies revealed abnormal dystrophin expression in 6 of 20 Duchenne muscular dystrophy ( DMD ) carriers examined , and in 5 of 12 Becker muscular dystrophy ( BMD ) carriers examined . ^^^ Mosaicism was detected with all six antibodies in the other three BMD ( but in only a small number of fibres ) and in all DMD carriers muscles . ^^^ In both the DMD and BMD carriers , a significant reduction in type 2B fibres , as well as an increase in type 2C and fetal myosin containing fibres was found as has also been reported in DMD patients . ^^^ The immunocytochemistry of muscle fibres was normal with five of the antibodies in two BMD carriers , but some muscle fibres were negative to the antibody directed against a portion of the dystrophin rod domain . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and Becker muscular dystrophies ( DMD / BMD ) are caused by mutations in the human dystrophin gene . ^^^ About two thirds of DMD / BMD patients exhibit gross rearrangements in the gene whereas the mutations in the remaining one third are thought to be point mutations or minor structural lesions . ^^^ To screen for microheterogeneities in this gene region we applied PCR SSCP analysis to exons 60 79 of twenty six DMD / BMD patients without detectable deletions . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In the present study , we investigated the status of the dystrophin associated proteins in the skeletal muscle from patients with Becker muscular dystrophy ( BMD ) , a milder allelic form of DMD . ^^^ BMD patients having in frame deletions in the rod domain of dystrophin showed a mild to moderate reduction in all of the dystrophin associated proteins in the sarcolemma , but this reduction was not as severe as that in DMD patients . ^^^ Our results indicate that ( 1 ) the abnormality of the sarcolemmal glycoprotein complex , which is similar to but milder than that in DMD patients , also exists in these BMD patients and ( 2 ) the rod domain of dystrophin is not crucial for the interaction with the dystrophin associated proteins . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Three cases out of 15 with Duchenne muscular dystrophy ( DMD ) , and one case out of 3 with limb girdle type muscular dystrophy which had previously been diagnosed on the basis of clinical data , were found to have non dystrophin related muscular dystrophy , and Becker muscular dystrophy ( BMD ) , respectively . ^^^ Three and two of five cases were diagnosed as DMD and BMD , respectively , though clinical diagnosis had not been possible because they were too young . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Here we describe the somatic transfer and long term expression of a human dystrophin minigene corresponding to a mild Becker muscular dystrophy ( BMD ) phenotype in skeletal muscle tissues of the dystrophin deficient mdx mouse by direct retroviral transduction . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We identified a Becker muscular dystrophy ( BMD ) patient , an intermediate , and a DMD patient with this deletion . ^^^ Two patients with large inframe deletions had discordant phenotypes ( exons 3 41 , DMD ; exons 13 48 , BMD ) , but both produced dystrophin that localized to the sarcolemma . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and Becker muscular dystrophy ( DMD and BMD ) are 10 linked recessive diseases caused by defective expression of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The dystrophin gene was analyzed in 59 Japanese patients with Duchenne muscular dystrophy ( DMD ) from 48 unrelated families , including 11 pairs of siblings , and three patients with Becker muscular dystrophy ( BMD ) from two unrelated families , including one pair of siblings . ^^^ Twenty seven of 50 ( 54 . 0 % ) unrelated DMD or BMD patients were found to have partial deletions , and five ( 10 % ) appeared to have partial duplications in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Nerve muscle co cultures from five Duchenne muscular dystrophy ( DMD ) patients and one Becker ( BMD ) patient , were studied by immunocytochemistry with antibodies against different portions of dystrophin . ^^^ In the BMD case an abnormal truncated dystrophin was found in innervated muscle cultures , as well as in muscle biopsy . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Cytosolic pH and phosphorus metabolite ratios in skeletal muscle were measured by 31P magnetic resonance spectroscopy in patients with Duchenne muscular dystrophy ( DMD ) and Becker ' s muscular dystrophy ( BMD ) and in Duchenne / Becker carriers . ^^^ These changes were largest in DMD , smaller in BMD and small or absent in carriers . ^^^ Cytosolic pH was increased substantially in DMD , moderately in BMD and slightly but significantly in gastrocnemius of carriers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have analysed the results of clinical assessment , 10 inactivation status , deletion screening and dystrophin analysis in eight manifesting carriers of Duchenne and Becker muscular dystrophy ( DMD and BMD ) . ^^^ Presentation varied from 2 to 25 yr and progression varied from a DMD like severity to a very mild BMD like course . ^^^ While dystrophin analysis seems to be reliable in identifying manifesting carriers of DMD and BMD , the relationship between 10 inactivation status , dystrophin analysis and phenotype is not simple . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Histopathological assessment was accurate for DMD but differentiation between BMD and other disorders was more difficult , as was the identification of manifesting carriers . ^^^ In this study we found a clear relationship between increased dystrophin abundance ( determined by densitometric analysis of blots ) and clinical condition , with a correlation between dystrophin abundance and the age at loss of independent mobility among boys with DMD and intermediate D / BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The 10 linked gene responsible for Duchenne muscular dystrophy ( DMD ) / Becker muscular dystrophy ( BMD ) encodes dystrophin , a high molecular weight cytoskeletal protein . ^^^ Studies in our laboratory revealed that 26 out of 47 ( 55 % ) cases of DMD and nine out of 12 ( 75 % ) cases of BMD exhibited genomic deletion . ^^^ The DMD phenotype is associated with mutations that shift the reading frame of the message , whereas the BMD phenotype is associated with mutations that maintain the reading frame . ^^^ DMD patients demonstrate a lack of dystrophin on their muscle cell membrane , whereas BMD patients produce a limited amount of protein or abnormally sized protein . ^^^ DMD patients demonstrate a lack of dystrophin on their muscle cell membrane , whereas BMD patients produce a limited amount of protein or abnormally sized protein . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Molecular analysis of the Duchenne muscular dystrophy ( DMD ) gene was performed on 4 unrelated patients with Becker muscular dystrophy ( BMD ) presenting with dilated cardiomyopathy . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The recent progress in molecular genetic studies on Duchenne and Becker muscular dystrophy ( DMD , BMD ) had an important spin off for our diagnostic abilities of both muscle disease . ^^^ In this study we underline the value of dystrophin analysis in all patients suspected of DMD , BMD or other muscular dystrophies , particularly in those without detectable DNA mutations . ^^^ By means of integrated DNA / dystrophin analysis 98 % of the DMD patients and 90 % of th BMD patients and their families can now be provided with an unambiguous diagnosis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In vitro evidence of abnormal dystrophin breakdown was observed reanalysing the muscle of patients , with BMD and not that of non Xp 21 dystrophies , after it has been stored for several months . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The study had three aims : to observe any trends in the analyses across the clinical groups , to correlate gene and protein expression in individual patients , and to use the data collected to assess the relative usefulness of different techniques in the diagnosis and prognosis of patients with Duchenne and Becker dystrophy ( DMD / BMD ) . ^^^ Group 1 had severe DMD ( n = 21 ) , group 2 had milder DMD ( n = 20 ) , group 3 were intermediate D / BMD patients ( n = 9 ) , group 4 had severe BMD ( n = 5 ) , and group 5 were more typical BMD patients ( n = 31 ) . ^^^ The number of DMD and BMD patients was about equal , in accord with disease prevalence in the north of England , but an unusually high proportion were sporadic cases . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are allelic disorders caused by mutations in the 10 linked dystrophin gene . ^^^ Molecular analysis of the dystrophin gene structure by hybridization of the full length cDNA to Southern blots and by PCR in 62 unrelated Israeli male DMD / BMD patients showed deletions in 23 ( 37 % ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Monoclonal antibodies recognizing different epitopes of dystrophin have now been widely applied in diagnostic tests for Duchenne and Becker muscular dystrophy ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Examination of patients with various types of muscular dystrophies verified the essential absence of dystrophin in DMD patients , and showed considerable dystrophin heterogeneity in patients with BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The severe Duchenne muscular dystrophy ( DMD ) and the more benign Becker type ( BMD ) are allelic conditions , controlled by a defective gene at Xp 21 , caused by the absence ( DMD ) or a defect in quantity or quality ( BMD ) of the protein dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Amplification of 18 dystrophin gene exons in DMD / BMD patients : simultaneous resolution by capillary electrophoresis in sieving liquid polymers . ^^^ Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophies are the two most common myopathies described so far . ^^^ In the late 80s , Chamberlain et al . and Beggs et al . proposed two PCR assays allowing detection of over 98 % DMD / BMD deletions . ^^^ Since each of them is based on specific co amplification of 9 dystrophin gene exons , a method attempting simultaneous analysis of DMD / BMD should offer unambiguous resolution and identification of 18 DNA fragments ranging in size from approximately 100 to 500 bp . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In order to detect an inverse correlation of utrophin presence and clinical severity , we have assessed utrophin distribution and quantity in DMD and Becker ( BMD ) patients of different ages and stages of clinical severity . ^^^ On Western blot , utrophin bands with concentrations 2 to 10 fold greater than in normal controls were detected in all DMD / BMD patients . ^^^ In a DMD patient with growth hormone ( GH ) deficiency and a BMD like clinical course , utrophin levels were comparable to the other typical DMD cases , which reinforces the hypothesis that the observed increase in utrophin is apparently not responsible for a milder clinical course in some patients with Xp 21 muscular dystrophies . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin characterization in BMD patients : correlation of abnormal protein with clinical phenotype . ^^^ The pattern of immunohistochemical staining in group B patients correlated with milder clinical phenotype , suggesting that small dystrophin molecules lacking a portion in the N terminus or in the rod domain , are more functional than proteins with normal or slightly reduced molecular weight that display the BMD typical patchy distribution at the sarcolemma . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DMD and BMD in the same family due to distinct mutations . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
OBJECTIVE To characterize the presence and behavior of the dystrophinopathic myocardial damage in female carriers of a gene defect at the Xp 21 locus of the 10 chromosome that causes Duchenne and Becker muscular dystrophies ( DMD and BMD ) . ^^^ PATIENTS A total of 197 women and girls aged 5 to 60 years ascertained to be carriers of the DMD ( n = 152 ) or BMD ( n = 45 ) gene . ^^^ RESULTS Preclinical or clinically evident myocardial involvement was found in 166 cases ( 84 . 3 % ) , without significant differences in percentage and behavior between DMD and BMD carriers . ^^^ CONCLUSIONS Genetic anomalies can be considered the primary cause of myocardial damage in carriers of dystrophinopathic myopathies ; myocardial damage shows the same behavior already described in DMD and BMD patients and progresses from preclinical to dilated cardiomyopathy , passing through stages of myocardial hypertrophy or dysrhythmias . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The diagnosis of BMD was initially made at the age of 10 years , when indications of persistent high serum levels of CK prompted us to screen deletions in the dystrophin gene by amplification of 19 deletion prone exons from the genomic DNA by the polymerase chain reaction ( PCR ) . ^^^ This result indicates that occasional myalgia and cramps could be early clinical manifestations of mild BMD , especially in patients who have a deletion in the rod domain , and that deletion screening of the dystrophin gene might be the only reliable method to diagnose such cases . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Haplotypes of the unaffected and affected persons of ten DMD / BMD Mexican families were determined . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We analyzed dystrophin in case of normal control , Duchenne muscular dystrophy ( DMD ) , Becker muscular dystrophy ( BMD ) and infectious muscular disease using two dimensional gel electrophoresis and immunoblotting with 3 monoclonal dystrophin antibodies : Dys 1 , a mid rod domain antibody ; Dys 2 , a C terminal domain antibody ; and Dys 3 , an N terminal domain antibody . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
However , small quantities of normal mRNA are also transcribed and these are sufficient to produce a reduced amount of normal molecular weight dystrophin and give rise to a milder BMD phenotype . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The dystrophin gene deletion patterns of Duchenne / Becker dystrophy were investigated in 57 DMD , 7 BMD and 1 DMD BMD intermediate muscular dystrophy patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The precise localization and semiquantitative correlation of dystrophin , utrophin and beta dystroglycan expression on the sarcolemma of skeletal muscle cells obtained from patients with Becker muscular dystrophy ( BMD ) was studied using three types of double immunofluorescence . ^^^ These results suggest that utrophin may compensate for dystrophin deficiency found in BMD by binding to beta dystroglycan . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In dystrophinopathy [ DMD and BMD ] , positivity was seen mainly in type 2 fibers with no correlation to the opaque fibers and histochemical Ca2+ loading fibers in DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Cardiac function was examined in 21 patients with Becker muscular dystrophy ( BMD ) and compared with 43 patients with Duchenne muscular dystrophy ( DMD ) and 37 healthy control subjects . ^^^ The ratio of the preejection period to the ejection time was higher in patients with BMD ( 0 . 37 + / 0 . 07 , mean + / SD ) than in patients with DMD ( 0 . 28 + / 0 . 05 ) and healthy controls ( 0 . 23 + / 0 . 04 ) . ^^^ Because motor dysfunction progresses more slowly in BMD than in DMD , a prolonged work load on the morbid myocardium may lead to dilated cardiomyopathy with mitral regurgitation . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutational analysis of muscle and brain specific promoter regions of dystrophin gene in DMD / BMD Italian patients by denaturing gradient gel electrophoresis ( DGGE ) . ^^^ In order to characterize the nature of mutations occurring in non deleted Duchenne ( DMD ) and Becker muscular dystrophy ( BMD ) affected males , a total of 40 unrelated Italian patients was studied for the presence of point mutations within the muscle specific regulatory region of the dystrophin gene . ^^^ No sequence alterations were found in either the muscle or the brain promoters , suggesting that mutations in these regions do not represent a common mechanism of mutation in DMD / BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The study involved 32 patients with progressive muscular dystrophy ( 28 DMD and four BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are 10 linked muscular dystrophies . ^^^ The recent isolation of the defective gene in DMD / BMD and the identification of its protein product , dystrophin , have revolutionized our ability to diagnose DMD / BMD and promoted speculation regarding the application of gene therapy . ^^^ On the basis of result of molecular analysis of dystrophin Kobe we propose a novel way of gene therapy for DMD , in which antisense oligonucleotides transform DMD into BMD phenotype by inducing exon skipping . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In 1987 a new concept in the 10 linked muscular dystrophies was born with the identification of dystrophin , a cytoskeletal protein responsible for several muscular diseases previously grouped as Duchenne ' s or Becker ' s muscular dystrophies ( DMD and BMD , respectively ) . ^^^ The DMD / BMD gene was located and sequenced and the protein product , dystrophin , was fully identified . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We studied 23 DMD and eight BMD patients using cardiac echo , 24 h ECG and positron emission tomography ( PET ) with the radiotracers N 13 ammonia and F 18 fluorine deoxyglucose . ^^^ Similar results were obtained for both DMD and BMD , where both groups demonstrated significant regional perfusion / metabolism mismatches . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The discovery of the subsarcolemmal muscle fiber protein dystrophin has , to a certain extent , replaced former nosological terms of Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophies by the term dystrophinopathies . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We investigated the expression of the DAPs beta dystroglycan , alpha sarcoglycan , gamma sarcoglycan and syntrophin as well as utrophin in the muscles of 13 Duchenne muscular dystrophy ( DMD ) carriers ( with variable percentages of dystrophin deficient fibers and with a range of clinical symptoms ) , 2 Becker muscular dystrophy ( BMD ) carriers ( expressing a highly truncated protein in some fibers ) , 2 girls with a DMD like phenotype , and 11 BMD carriers with almost normal dystrophin expression ( reduced or patchy distribution in a few fibers only and rare dystrophin deficient fibers ) . ^^^ DAPs were highly reduced in all fibers lacking dystrophin in the DMD carriers , but were almost normal in the dystrophin deficient fibers of the 2 BMD carriers with highly truncated dystrophin . ^^^ Utrophin expression was slightly increased in a proportion of fibers in the DMD and BMD carriers with dystrophin mosaicism . ^^^ We conclude that absence or reduction of dystrophin in muscle fibers of DMD and BMD carriers causes a reduction of DAPs in the same fibers , as observed in DMD and BMD patients , while utrophin does not seem to play a role in DAP expression in adult muscle . . ^^^ In the 11 BMD carriers with nearly normal dystrophin , the few fibers with reduced or patchy dystrophin immunostaining also showed reduced DAP expression in correlation with dystrophin expression . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We investigated the immunohistochemical distribution of cytoskeletal proteins in smooth muscles of 15 patients with Duchenne muscular dystrophy ( DMD ) , 8 patients with Becker muscular dystrophy ( BMD ) , 28 patients with various neuromuscular diseases , and 2 normal controls , performing skin and muscle biopsies . ^^^ Dystrophin immunostaining confirmed absent reaction in the arrector pili muscles of DMD patients , faint positive reaction in BMD patients , and strong dystrophin reaction in patients with other neuromuscular diseases and normal controls . ^^^ Staining of the capillary endothelial cells and muscular vessel walls was seen in normal controls , as well as in DMD , BMD , and other neuromuscular diseases . ^^^ Dystrophin immunostaining confirmed absent reaction in the arrector pili muscles of DMD patients , faint positive reaction in BMD patients , and strong dystrophin reaction in patients with other neuromuscular diseases and normal controls . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In mild BMD , myocardial damage may develop because the patients , who are unaware of a possible cardiac involvement , are still able to perform strenuous muscle exercise and , through pressure or volume overload , may induce mechanical stress , which is harmful for dystrophin deficient myocardial cells . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
By conventional Southern blot hybridisation , no junction fragments were detected in 27 unrelated patients with Duchenne ( DMD ) or Becker ( BMD ) muscular dystrophy , who had 20 deletions and seven duplications in the dystrophin gene . ^^^ When the junction fragments were used as markers , five carriers were unequivocally diagnosed among six females from two families of DMD / BMD patients . ^^^ This novel method allows simple and definitive identification of carriers with risk factors for DMD / BMD without using quantitative Southern blot hybridisation . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The lower number of carrier mothers in sporadic cases suggests a higher frequency of new mutations in North Indian DMD @ BMD patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In this study , the ratios of dystrophin positive ( + ) , partially deficient ( + / ) , and deficient ( ) fibers were investigated immunohistochemically in 28 Duchenne muscular dystrophy ( DMD ) and 4 Becker muscular dystrophy ( BMD ) patients using Dys 1 ( midrod ) , Dys 2 ( COOH terminal ) , and Dys 3 ( NH 2 terminal ) antibodies . ^^^ In BMD patients , it was shown that amino and carboxyl terminals of dystrophin could be affected in addition to the midportion . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The molecular basis of two allelic forms of muscular dystrophy , Duchenne ( DMD ) and Becker ( BMD ) , has been explained by frame shift hypothesis . ^^^ In order to test this hypothesis , deletional mutations in 59 patients confirmed to have DMD and 11 BMD patients were analysed using multiplex polymerase chain reaction and Southern hybridization with dystrophin cDNA probes . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We performed electroretinography , VEPs , BAEPs , SEPs and MEPs in 18 patients with Duchenne muscular dystrophy ( DMD ) , 18 with Becker muscular dystrophy ( BMD ) and 12 obligate carriers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The intracellular localization of dystrophin and beta dystroglycan mRNA in skeletal muscles of patients with Duchenne muscular dystrophy ( DMD ) or Becker muscular dystrophy ( BMD ) and normal subjects was examined by in situ hybridization using biotinylated oligonucleotide probes . ^^^ Quantitative analysis of mRNA signals demonstrated no prominent reduction of dystrophin or beta dystroglycan mRNA in DMD / BMD muscles . ^^^ These results suggest that even mRNAs with deletions contain specific information that affects their localization , and the characteristic defect of dystrophin in DMD / BMD muscles seems to be caused mainly by the instability of dystrophin protein , as a post transcriptional event . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Using the polymerase chain reaction method ( PCR ) , we examined the allele frequencies and heterozygosities of 7 polymorphic sites ( pERT 87 , and CA polymorphisms in the 5 ' and 3 ' regions ) of the dystrophin gene in 20 Japanese Duchenne muscular dystrophy and Becker muscular dystrophy ( DMD or BMD ) families consisting of 36 males , including 23 cases of DMD and BMD , and 28 females . ^^^ The usefulness of linkage analysis involving PCR methods with these intragenic , and 5 ' and 3 ' markers of the dystrophin gene in the carrier and prenatal diagnosis of DMD and BMD was confirmed by the successful prenatal diagnoses in 15 fetuses , the exception being one case considered to have a new mutation . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Most population studies on Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophies predated the discovery of the gene and its product dystrophin . ^^^ In our study of the Slovene population the prevalence and cumulative incidence of DMD and BMD were calculated by including additional diagnostic tests : deletion screening in the dystrophin gene as well as dystrophin immunocytochemistry . ^^^ The minimal prevalence rates , 2 . 9 / 100 , 000 for DMD , 1 . 2 / 100 , 000 for BMD , and the minimal cumulative DMD incidence rate of 13 . 8 / 100 , 000 are in the range of lower estimates compared to studies world wide . ^^^ However , we found a high BMD cumulative incidence rate of 5 . 7 / 100 , 000 and a high proportion of BMD versus DMD cumulative incidence rate ( 41 . 3 % ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The main goal of this study was to determine and characterise the types of mutations in two monogenic human disorders : cystic fibrosis ( CF ) and Duchenne / Becker muscular dystrophy ( DMD , BMD ) and the susceptibility allele frequency in a polygenic disease : type 1 insulin dependent diabetes mellitus ( IDDM ) . ^^^ Fifty % of 66 patients with DMB / BMD muscular dystrophy had one or more exon deletions in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To clarify new mutational rates in the dystrophin gene between deletion and duplication mutations , carrier diagnosis was performed on 123 mothers of probands suffered from Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy . ^^^ Out of 108 mothers of DMD / BMD patients with deletion mutation in dystrophin gene , 69 were carriers and 39 were non carriers . ^^^ The risk of the mother of an isolated case of DMD / BMD with duplication mutation of being a carrier is significantly higher than the estimated risk based on the equality of new mutation in oogenesis and spermatogenesis . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is a cytoskeletal protein , defects of which results in Duchenne or Becker muscular dystrophy ( DMD or BMD ) . ^^^ About 70 % of all DMD and BMD cases is caused by large deletions and duplications in the dystrophin gene . ^^^ Dystrophin is a cytoskeletal protein , defects of which results in Duchenne or Becker muscular dystrophy ( DMD or BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The dystrophin gene deletion in 53 Duchenne and 21 Becker muscular dystrophy ( DMD / BMD ) male patients was analyzed by DNA test using multiplex polymerize chain reaction ( M PCR ) in Croatian population . ^^^ The overall percentage of deletion cases observed was 50 % ; 61 % ( 53 / 32 ) for DMD and 38 % ( 21 / 8 ) for BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , a component of the muscle membrane cytoskeleton , is the protein altered in Duchenne Muscular Dystrophy ( DMD ) and Becker Muscular Dystrophy ( BMD ) . ^^^ Dystrophin , a component of the muscle membrane cytoskeleton , is the protein altered in Duchenne Muscular Dystrophy ( DMD ) and Becker Muscular Dystrophy ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The BMD was confirmed by ( 1 ) immunohistological methods and Western blotting , showing decreased quantity of dystrophin in muscle biopsy specimen and ( 2 ) molecular genetic analysis which demonstrated a homozygous deletion of exons 45 47 within the dystrophin gene on both 10 chromosomes . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne ( DMD ) and Becker ( BMD ) type muscular dystrophies are allelic 10 linked recessive disorders caused by mutations in the gene encoding dystrophin . ^^^ Five different pathogenic mutations were identified in 6 out of 192 DMD / BMD patients without detectable deletions : 2 nonsense , 1 bp insertion , 1 bp deletion and 1 intronic . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In this paper we review the available methods for detection of large and small mutations in patients and in carriers and propose a systematic approach for genetic analysis and genetic counselling of DMD and BMD families , including prenatal and preimplantation diagnosis . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Abnormal electroretinograms ( ERG ) in some Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) patients are likely linked to a disruption of Dp 260 . ^^^ These ERG findings differed from those of DMD and BMD patients , especially with regard to amplitude of the b wave , but make it clear that Dp 260 is required for normal electrophysiology . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Sarcolemmal expression occurs on regenerating fibers , irrespective of the disease , and is also seen on mature fibres in Duchenne and Becker muscular dystrophies ( DMD , BMD ) , and inflammatory myopathies . ^^^ The reasons for the abnormal expression in DMD and BMD are unclear . ^^^ We have studied this expression of utrophin immunocytochemically on mature fibres in 42 cases of DMD and BMD , aged 3 months 24 years of age . ^^^ Our data show that the abnormal expression of utrophin on mature muscle fibres in DMD and BMD is not a continuation of the expression that occurs in fetal or regenerating muscle , but is a secondary event caused by unknown factors . ^^^ As all cases studied had some expression of utrophin on mature fibres , this may be a useful additional tool for distinguishing BMD from other dystrophies , especially in cases with minimal abnormalities in dystrophin expression and / or no detectable mutation in the gene . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We studied by high resolution immunofluorescence ( HRI ) and by confocal laser scanning optical microscopy ( CLSOM ) the costameric organization of dystrophin and vinculin at the surface membrane of muscle fibers from 4 young boys with Becker muscular dystrophy ( BMD ) . ^^^ In BMD fibers , the dystrophin bands were stretched apart , interrupted , or did not show the intermediate band encircling the M band . ^^^ By CLSOM , computer reconstruction of muscle surface membrane showed disorganization of the costameric dystrophin lattice at the membrane level in BMD muscle , in contrast with the preservation of the costameric lattice organization of vinculin . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The multiplex polymerase chain reaction ( PCR ) is a reliable and efficient method for detecting dystrophin gene deletions in about 65 % of patients with Duchenne or Becker muscular dystrophy ( DMD or BMD ) . ^^^ The 9 plex PCR assay , which simultaneously amplifies the muscle specific promoter and exons 3 , 6 , 13 , 43 , 47 , 50 , 52 and 60 , is one of the multiplex PCR assays used routinely to test for DMD and BMD deletions . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and Becker muscular dystrophies ( DMD and BMD , respectively ) are the most common inherited muscular diseases and caused by mutations in the dystrophin gene . ^^^ Half to two thirds of DMD and BMD patients carry deletions ( usually of several kilobases of genomic DNA ) . ^^^ The clinical progression in DMD and BMD patients with deletions can be predicted in 92 % of cases based on whether the deletion maintains or disrupts the translational reading frame ( frame shift hypothesis ) . ^^^ For molecular diagnosis of DMD / BMD it is important to analyze not only in genomic DNA level , but also in mRNA , protein , and clinical levels . ^^^ However , some exceptional cases have been reported ; BMD cases whose dystrophin gene exons 3 to 7 were deleted ( out of frame ) , more severe case whose dystrophin gene deletion maintains reading frame but includes N terminal region , and so on . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In general , BMD patients who carry the mutations in the 5 ' end of the dystrophin gene tend to show severe cardiac dysfunction compared with skeletal myopathy , and these mutations may be responsible for more selective involvement of dystrophin appearance in the myocardium . ^^^ In this article , we review the causative relationship of the variable clinical pictures and the dystrophin gene abnormalities in BMD patients , focusing on the severity of cardiac disorder . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families : from Southern blot to protein truncation test . ^^^ Data from 6 years of experience in molecular diagnosis of Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy in Southern France are reported . ^^^ DMD and BMD patients have been extensively analyzed for deletions and for point mutations in the dystrophin gene . ^^^ Allele frequencies at each of the six microsatellite loci and at one restriction fragment length polymorphism site ( intron 16 / TaqI ) were defined in a sample of normal , DMD , and BMD 10 chromosomes from Southern France . ^^^ DMD and BMD patients have been extensively analyzed for deletions and for point mutations in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne / Becker muscular dystrophies ( DMD / BMD ) are the most common inherited muscular disease and caused by mutations in the dystrophin gene . ^^^ A half to two thirds of DMD and BMD patients carry deletions ( usually of several kilobases of genomic DNA ) . ^^^ The clinical progression in DMD and BMD patients with deletions can be predicted in 92 % of cases based on whether the deletion maintains or disrupts the translational reading frame ( frame shift hypothesis ) . ^^^ In the case of DMD / BMD with deletions of the dystrophin gene , carrier diagnosis is difficult because of the existence of normal 10 chromosome . ^^^ For the molecular diagnosis of DMD / BMD it is important to analyze not only at the genomic DNA level , but also at the mRNA , protein , and clinical levels . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In order to screen for cardiac abnormalities , we prospectively studied 15 patients ( age 8 25 years , mean 15 . 5 years ) with Duchenne ' s ( DMD ) ( n = 9 ) and Becker ' s ( BMD ) ( n = 6 ) muscular dystrophy using the echocardiogram . ^^^ In contrast , the atrial component ( A vmax , A tvi ) of diastolic filling in DMD / BMD showed no significant difference to controls . ^^^ Systolic left ventricular function was significantly impaired in the DMD / BMD group ; we found lower heart rate corrected fiber shortening velocity VCFc ( P < 0 . 001 ) and higher peak systolic wall stress ( P < 0 . 001 ) in DMD / BMD . ^^^ Systolic and diastolic myocardial impairment was found even in young patients and at low stages of disability equally among patients with DMD or BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In this study 14 patients with Duchenne Muscular Dystrophy ( DMD ) , 7 with Becker Muscular Dystrophy ( BMD ) , and 8 female carriers who were asymptomatic were evaluated with echocardiography and multigated radionuclide ventriculography ( MUGA ) . ^^^ In conclusion , it is recommended that DMD , BMD , and female carriers be evaluated and closely monitored for cardiac functions . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Deletions and point mutations in the gene encoding the cytoskeletal protein dystrophin and its isoforms cause either the severe progressive myopathy Duchenne muscular dystrophy ( DMD ) or the milder Becker muscular dystrophy ( BMD ) , largely depending on whether the reading frame is lost or maintained respectively . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In order to offer carrier detection , genetic counseling , and prenatal diagnosis to families with Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) in our country , segregation analysis of highly polymorphic short tandem repeats ( STR ) ( dC dA ) n : ( dG dT ) n loci was utilized . ^^^ The risks to females of 15 DMD BMD families ( 9 familial and 6 sporadic ) were evaluated on STR , pedigree and serum creatine kinase ( SCK ) data . ^^^ Results derived from this study are useful for carrier detection and genetic counseling in DMD / BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A boy with a Becker muscular dystrophy ( BMD ) phenotype presented unique muscular dystrophin expression . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The pattern of 10 inactivation in lymphocyte DNA was investigated in 107 Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) carriers ( 102 asymptomatic and 5 manifesting carriers ) and 117 normal female controls of different ages , with the aim : a ) to analyze the pattern of 10 inactivation in blood DNA of a large number of DMD / BMD carriers as compared to normal female controls ; b ) to determine if there is a decrease in serum creatine kinase ( CK ) levels with age in obligate DMD / BMD carriers ; c ) to determine if there is a correlation between 10 chromosome inactivation and serum CK among asymptomatic DMD / BMD carriers of different ages or with different clinical manifestations in symptomatic carriers . ^^^ The mean serum CK was significantly greater among young ( < 20 years old ) than adult ( > 20 years old ) DMD / BMD carriers and it decreased significantly until age 20 with an apparent stabilization afterwards . ^^^ No statistically significant correlation was found between the proportion of active 10 ( DMD ) in blood and serum CK activity in DMD / BMD carriers although it was higher among those less than 20 years old . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
It was less than 2 in 71 % ( n = 7 ) of Becker muscular dystrophy ( BMD ) patients ( mean ratio 1 . 12 ; range 0 . 88 1 . 37 ) , and less than 2 in 50 % ( n = 4 ) of definitive DMD carriers . ^^^ Twenty nine percent of BMD , 50 % of DMD carriers , and the only case with asymptomatic dystrophinopathy had normal ratios ( greater than 2 ) . ^^^ The differences between the mean ratios of control , DMD , and BMD groups were statistically significant , all of them with P < 0 . 001 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have investigated the quantity of argyrophilic nucleolar organizer region ( AgNOR ) proteins in vastus lateralis muscle samples from 13 patients with Duchenne muscular dystrophy ( DMD ) ( 6 months 12 years ) , 9 with Becker muscular dystrophy ( BMD ) ( 13 months 36 years ) , 9 with polymyositis ( PM ) ( 8 77 years ) and 10 normal subjects ( 5 months 32 years ) . ^^^ The mean NORA values encountered in DMD ( 4 . 327+ / 0 . 791 microm 2 ) , BMD ( 3 . 534+ / 0 . 312 microm 2 ) and PM ( 3 . 785+ / 0 . 424 microm 2 ) samples were significantly ( P < 0 . 001 ) higher than those of normal muscle ( 1 . 682+ / 0 . 288 microm 2 ) ; a value of P < 0 . 001 was also obtained when NORA values found in DMD were compared with those of BMD or PM . ^^^ In addition , when NORA values were exclusively calculated in regenerating myofibers in DMD , BMD and PM , no differences were appreciable . ^^^ On the other hand , in non regenerating myofibers , the NORA values showed a significant increase in DMD versus BMD and PM ( P < 0 . 001 ) as well as in each disease group versus controls . ^^^ Our study documents that muscle diseases , such as DMD , BMD and PM in which regeneration is a constant finding , have a high rDNA transcriptional activity . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are 10 linked neuromuscular disorders associated with alterations in the dystrophin gene . ^^^ Analysis of 45 DMD / BMD patients has identified 18 patients with no deletion in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD / BMD patients . ^^^ In order to screen for pathogenic mutations at the distal part of the human dystrophin gene we have used single strand conformation analysis of products amplified by polymerase chain reaction ( PCR SSCA ) in 35 unrelated male Greek DMD / BMD patients with no detectable deletions . ^^^ Direct sequencing of samples demonstrating a shift of SSCA mobility revealed six different and pathogenic minor changes , five in DMD and one in a BMD patient . ^^^ The present data from Greek DMD / BMD patients give further information about the phenotypic effects consequent on mutations in exons at the distal part of the human dystrophin gene . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Left ventricular thrombosis and systemic emboli have been demonstrated to complicate cardiomyopathy in Duchenne and Becker muscular dystrophy ( DMD , BMD ) . ^^^ We investigated plasma levels of prothrombin fragment 1+2 ( F1+2 ) . thrombin antithrombin 3 complex ( TAT ) and circulating levels of tumor necrosis factor alpha ( TNF alpha ) , a procoagulant cytokine that has been shown to be elevated in patients with depressed cardiac function , in 20 patients with DMD and 12 patients with BMD as compared with 30 age matched control subjects . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
With the exception of the ERG finding , there was no clinical or laboratory evidence of DMD or Becker muscular dystrophy ( BMD ) . ^^^ Patients with DMD and BMD should be screened systematically for sensorineural hearing loss . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Furthermore , only 20 . 7 % of the mothers of isolated deletion DMD / Becker muscular dystrophy ( BMD ) patients were found to be carriers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND : Carriers of Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) may show muscle weakness or dilated cardiomyopathy . ^^^ METHODS : Carriers of DMD and BMD , aged 18 60 years , were traced through the files of the central register kept at the Department of Human Genetics in Leiden , Netherlands . ^^^ FINDINGS : 129 carriers of muscular dystrophy ( 85 DMD , 44 BMD ) participated in the study . ^^^ Muscle weakness was found in carriers of DMD and BMD , but dilated cardiomyopathy was found only in seven ( 8 % ) carriers of DMD , of whom one had concomitant muscle weakness . ^^^ INTERPRETATION : Clinical manifestation of muscle weakness , dilated cardiomyopathy , or both can be found in about a fifth of carriers of DMD and BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The clinical and molecular features of 25 Duchenne ( DMD ) , two intermediate ( D / BMD ) and three Becker ( BMD ) muscular dystrophy patients from 26 unrelated families were evaluated . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A cross sectional study in a cohort of DNA proven carriers of Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy was undertaken with the following objectives : ( 1 ) to estimate the frequency of electrocardiographic ( ECG ) and echocardiographic abnormalities ; ( 2 ) to establish the proportion of carriers with dilated cardiomyopathy and ( 3 ) to assess possible associations between dilated cardiomyopathy and genotype . ^^^ One hundred and twenty nine DMD and BMD carriers , aged 18 60 years , were traced through the files of the central register kept at the department of Human Genetics in Leiden . ^^^ Thirty six percent ( DMD 41 % , BMD 27 % ) had at least one abnormality as is usually found in the male patients . ^^^ Echocardiographic examination was abnormal in 36 % ( DMD 38 % , BMD 34 % ) . ^^^ Dilated cardiomyopathy was found in seven DMD carriers ( 8 % ) , and in none of BMD carriers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Poly L lactides containing beta alkyl alpha malate units were prepared by ring opening copolymerizations of L lactide with 3 ( s ) [ ( benzyloxycarbonyl ) methyl ] ( BMD ) and 3 ( s ) [ ( dodecyloxycarbonyl ) methyl ] 1 , 4 dioxane 2 , 5 diones ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The deletion spectrum and distribution of deletion breakpoints ( DBs ) in 36 patients with Duchenne muscular dystrophy ( DMD ) from 33 families and in three patients with Becker muscular dystrophy ( BMD ) from one family from Bashkortostan were studied by amplifying 20 exons of the dystrophin gene by multiplex polymerase chain reaction ( mPCR ) . ^^^ Eight out of 34 unrelated DMD ( BMD ) patients ( 23 . 2 % ) were shown to carry a deletion varying in size from one to seven exons . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne ( DMD ) and Becker ( BMD ) are allelic forms of a 10 linked neuromuscular disorder . ^^^ Two thirds of DMD / BMD patients have large deletions localised in two hot spots , and the remaining cases are presumed to be caused by point mutations . ^^^ Hence carrier and prenatal diagnosis in 40 % of families rely heavily on indirect approaches which presents major drawbacks and are not applicable in sporadic cases of DMD or BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Additionally , our protocol represents a general model for point mutation analysis in other genetic disorders and has already been successfully established for OTC deficiency , collagene deficiency , 10 linked myotubular myopathy ( XLMTM ) , Duchenne and Becker muscular dystrophy ( DMD , BMD ) , Wilson disease ( WD ) , Neurofibromatosis 1 and 2 , Charcot Marie Tooth disease , hereditary neuropathy with liability to pressure palsies , and defects in mitochondrial DNA . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Significant brain atrophy was observed in 21 out of 63 cases of Duchenne muscular dystrophy ( DMD ) , 7 out of 15 Becker muscular dystrophy ( BMD ) , no case of 2 female dystrophinopathy ( F dyst ) , 11 out of 21 limb girdle muscular dystrophy ( LG ) , all cases of 10 Fukuyama type congenital muscular dystrophy ( FCMD ) , 2 out of 5 fascioscapulohumeral muscular dystrophy ( FSH ) , and 32 out of 44 myotonic dystrophy ( MyD ) . ^^^ The trace of cerebral vascular accident was disclosed in eleven patients with PMD ( 1 DMD , 2 BMD , 1 F dyst , 2 LG , 5 MyD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Five boys had persistent CK elevations and were confirmed to be DMD or Becker ( BMD ) cases by DNA analysis and / or dystrophin analysis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The distribution of deletions in dystrophin gene is associated with the phenotype of DMD / BMD . ^^^ In the 25 cases with in frame deletions , 15 deletions located in the region of exons 2 47 were milder BMD and intermediate patients , as the location of deletions was not the important region of the dystrophin gene . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A molecular genetics based epidemiological investigation was carried out in 1997 in the territory of North West Tuscany , central Italy , to calculate incidence and prevalence rates of Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) . ^^^ Routine adoption of methods of molecular diagnosis determined an increase in prevalence of BMD from 1 . 06 10 10 ( 5 ) to 2 . 42 10 10 ( 5 ) inhabitants , while cumulative incidence of DMD was markedly decreased from 23 . 12 10 10 ( 5 ) during the period 1965 1976 to 10 . 71 10 10 ( 5 ) male live births during the period 1977 1994 . ^^^ The combined reduction of DMD / BMD diagnostic error rate and familial recurrence could explain these results , providing the bases for a consistent redefinition of dystrophinopathy carrier frequency in the area considered . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The missense mutation , 719G > C , causing the substitution of highly conserved alanine residue at 171 with proline in the actin binding domain of the dystrophin , is associated with a BMD phenotype . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Glutathione and GSH related enzymes were determined in human Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) skin fibroblasts in order to relate muscular dystrophy to the redox state of the cell . ^^^ While in DMD cells there is a decrease of roughly 55 % in GSH and of 30 % in total GSH concentration , no changes are measured in normal and BMD cells . ^^^ These results indicate a different capacity of DMD cells to support oxidative stress with respect to BMD and normal cells , and suggest a possible role of the GSH antioxidant system in dystrophic pathology . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In this paper we show that Becker Muscular Dystrophy ( BMD ) and Duchenne Muscular Dystrophy ( DMD ) skin fibroblasts are more susceptible to H2O2 treatment than are fibroblasts from unaffected persons . ^^^ The intracellular free calcium concentration increased by 22 % , 35 % , and 40 % in unaffected , BMD , and DMD fibroblasts , respectively . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We found a lower expression of thrombomodulin on the muscle cell membrane in the BMD patient compared with other BMD or Duchenne muscular dystrophy ( DMD ) patients . ^^^ Although utrophin up regulation in muscle is thought to prevent the muscle wasting in dystrophin deficient DMD or BMD , the data obtained in the present study indicate that up regulated utrophin may have an unexpected influence on the function of the vascular or coagulation system . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) , with an incidence of one in 3500 male new borns , and its milder variant , Becker muscular dystrophy ( BMD ) , are allelic 10 linked recessive disorders , caused by mutations in the gene coding for dystrophin , a 427 kD cytoskeleton protein . ^^^ The results revealed unambiguously the presence of three transcripts : 598bp , 849bp and 1583bp long which are selectively expressed in the muscles afflicted with muscular dystrophy as compared to the normal muscle . 1583bp gene transcript was conspicuously present in the muscle tissues of both DMD and BMD patients whereas 598bp and 849bp long transcripts were exclusively present in DMD but not in BMD patients or normal human subjects . ^^^ These gene transcripts had no sequence homology with dystrophin gene and these were also present in the families belonging to DMD and BMD patients . ^^^ These results point to the fact that based upon the selective expression of these three gene transcripts , one could not only differentiate between DMD and BMD diseases at the molecular level , but also between normal and dystrophic muscle . ^^^ Further , these findings also reveal that apart from dystrophin gene , these gene transcripts may also be responsible for the differential progression of DMD / BMD phenotype . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We report a novel beta sarcoglycan gene mutation identified in a 21 year old Portuguese male with a progressive myopathy of intermediate severity , who had been misdiagnosed as Becker Muscular Dystrophy ( BMD ) based on clinical observations and muscle immunocytochemical anaylsis with dystrophin antibodies only . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Two cases of Duchenne type muscular dystrophy ( DMD ) , two of Becker type muscular dystrophy ( BMD ) , and one of limb girdle type muscular dystrophy ( LGMD ) were also investigated . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and the allelic disorder Becker muscular dystrophy ( BMD ) are common 10 linked recessive neuromuscular disorders that are associated with a spectrum of genetically based developmental cognitive and behavioral disabilities . ^^^ Seven promoters scattered throughout the huge DMD / BMD gene locus normally code for distinct isoforms of the gene product , dystrophin , that exhibit nervous system developmental , regional and cell type specificity . ^^^ Dystrophin deficiency in DMD / BMD patients and in the mdx mouse model appears to impair intracellular calcium homeostasis and to disrupt multiple protein protein interactions that normally promote information transfer and signal integration from the extracellular environment to the nucleus within regulated microdomains . ^^^ In DMD / BMD , the individual profiles of cognitive and behavioral deficits , mental retardation and other phenotypic variations appear to depend on complex profiles of transcriptional regulation associated with individual dystrophin mutations that result in the corresponding presence or absence of individual brain dystrophin isoforms that normally exhibit developmental , regional and cell type specific expression and functional regulation . ^^^ Dystrophin deficiency in DMD / BMD patients and in the mdx mouse model appears to impair intracellular calcium homeostasis and to disrupt multiple protein protein interactions that normally promote information transfer and signal integration from the extracellular environment to the nucleus within regulated microdomains . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We report on a boy with a BMD phenotype presenting with a deletion of exons 45 49 in the DMD gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We projected an inquiry about the incidence rate and type of severe anaesthetic complications in an utmost large number of patients and families with Duchenne ( DMD ) and Becker type ( BMD ) muscular dystrophy . ^^^ METHODS : With the approval of the ethic committee of the university Witten / Herdecke and informed consent of the participants we investigated all patients and families who were diagnosed , controlled and treated for DMD or BMD as inpatients or outpatients in a `` Muscle Centre ' ' since 1983 . ^^^ The questionnaire asked for the number of patients per family , classification of the disease DMD or BMD , number and date of anaesthetics in the patients and eventual complications , anaesthetics and eventual complications in the parents , siblings and relatives and the occurrence of malignant hyperthermia ( MH ) in the family or relatives . ^^^ In 147 families it turned out to be DMD , in 53 families BMD . ^^^ All six cardiac arrests occurred in the 45 families with undiagnosed disease and no event happened in the 134 families with already known DMD / BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are 10 linked recessive neuromuscular diseases caused by dystrophin gene mutations . ^^^ Cosmid clones , representing 16 exons , were identified and used in FISH analysis of DMD / BMD families . ^^^ Our preliminary work has identified multiple , informative probes for several families with dystrophin deletions and has shown that a FISH based assay can be an effective and direct method for establishing the DMD / BMD carrier status of females . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The discovery of the dystrophin gene , whose mutations lead to Duchenne ' s and Becker ' s muscular dystrophy ( DMD and BMD ) , represents the first important landmark by which , in the last ten years , molecular biology and genetic studies have revealed many of the molecular defects of the major muscular dystrophies . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dramatical development of molecular genetics has been disclosing the molecular mechanism of Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Various laboratory tests were performed to establish carriership in 24 familial and sporadic carriers of Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
OBJECTIVE : To explore the relationship between electrophysiological changes , clinical phenotype and genotype in Duchenne and Becker muscular dystrophy ( DMD / BMD ) , to address the expression and roles of dystrophin and its isoforms on the retina , and to inquire into the molecular mechanism of the abnormal electroretinogram ( ERG ) on DMD / BMD patients with different genotype . ^^^ METHODS : Gene deletions were screened by multiplex DNA amplification with eleven primers on twenty two consecutive patients with DMD and BMD , and then , the ERG was tested according to international ERG standard . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in the dystrophin gene result in dystrophin deficiency , which constitutes the pathogenic basis of Duchenne and Becker MD ( DMD and BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
An extended population of 11 Duchenne muscular dystrophy ( DMD ) and 11 Becker muscular dystrophy ( BMD ) patients was investigated to determine whether ectopic muscle expression of the two full length non muscular isoforms is a common event in dystrophinopathies and if it has functional significance . ^^^ Up regulation of the two non muscle specific isoforms was detected in four DMD patients but in none of the BMD affected individuals or non dystrophic controls . ^^^ We consider that muscle ectopic expression of the brain and Purkinje cell type isoforms has no favorable prognostic significance in DMD and BMD patients . . ^^^ Despite promoter tissue specificity , up regulation of the brain and Purkinje cell type dystrophin isoforms was described in skeletal muscle of 10 linked dilated cardiomyopathy ( XLDCM ) and BMD affected individuals . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Their muscle immunohistochemistry differed from that seen in Duchenne and Becher muscular dystrophy ( DMD and BMD ) , severe childhood autosomal recessive muscular dystrophy ( SCARMD ) due to sarcoglycan deficiency ( sarcoglycanopathies ) , and lamininalpha 2 ( merosin ) deficient CMD . ^^^ They can also distinguish it from features seen in the other common forms of MD , including DMD , BMD , and sarcoglycanopathies . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Considering that exon 45 is the single most frequently deleted exon in DMD , whereas exon ( 45+46 ) deletions cause only a mild form of BMD , we set up an antisense based system to induce exon 46 skipping from the transcript in cultured myotubes of both mouse and human origin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The presence and the distribution of inducible NOS ( NOS 2 or iNOS ) , and NADPH diaphorase ( NADPH d ) , a marker for NOS catalytic activity , were determined in muscle sections from control , DMD , and BMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To investigate whether there are any basic abnormalities of coagulation and fibrinolysis in muscular dystrophy , we measured serum levels of the MM isozyme of creatine kinase ( CK MM ) , fibrin and fibrinogen degradation products ( FDP ) , plasma levels of fibrinogen , antithrombin ( AT ) , and D dimer in 36 patients with Duchenne muscular dystrophy ( DMD ) , 11 with Becker muscular dystrophy ( BMD ) , 5 with Fukuyama congenital muscular dystrophy ( FCMD ) , 5 with myotonic dystrophy ( MyD ) , and 5 with spinal muscular atrophy ( SMA ) type 2 . ^^^ FDP levels were elevated in the patients with DMD , BMD , and FCMD ( 1 . 0 to 84 . 9 microg / ml ) , but not in the patients with MyD and SMA type 2 . ^^^ In DMD , BMD , and FCMD , FDP levels significantly correlated with CK MM , but not with age , fibrinogen , AT , D dimer , and type of dystrophy ( multiple regression analysis ; r ( 2 ) = 0 . 814 , P < 0 . 0001 ) . ^^^ These findings suggested that enhanced coagulation and fibrinolysis are associated with muscle degeneration in patients with DMD , BMD , and FCMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Screening of dystrophin gene deletions in Egyptian patients with DMD / BMD muscular dystrophies . ^^^ Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are allelic disorders caused by mutations within the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne / Becker muscular dystrophy ( DMD / BMD ) are the most common inherited muscular diseases caused by mutations in the dystrophin gene . ^^^ Deletions of the dystrophin gene were analyzed in a total of 137 DMD / BMD patients ( DMD 94 , BMD 43 ) to determine central nervous system ( CNS ) symptoms . ^^^ Thirty nine percent of DMD boys and 12 % of BMD patients were classified as mentally retarded . ^^^ Eight DMD and 2 BMD patients were diagnosed as having autism . ^^^ Forty four percent of DMD and 79 % of BMD patients had deletions in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In the present study , a total of 50 DNA samples from unrelated D / BMD ( 38 DMD and 12 BMD ) patients who did not show intragenic deletions by multiplex PCR , were analyzed for detection of point mutations . ^^^ Single stranded conformation analysis and heteroduplex analysis observed electrophoretic mobility shifts in one ( BMD ) and two ( DMD and BMD ) patients , respectively . ^^^ Duchenne and Becker muscular dystrophies ( D / BMD ) are caused by mutations in the dystrophin gene . ^^^ Mutation database search for D / BMD mutations showed the nucleotide substitution in the exonic region as a novel change in the human dystrophin gene , which was not reported earlier . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophies are an heterogeneous group of diseases characterized by a progressive muscular degeneration . ^^^ The total dystrophin deficiency leads to DMD while the reduction of dystrophin expression to BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We studied 48 patients with dystrophinopathies ( 29 Duchenne muscular dystrophy ( DMD ) , 13 Becker muscular dystrophy ( BMD ) , four possible carriers , one female with DMD , and one intermediate form , using polymerase chain reaction ( PCR ) analysis of muscle tissue for 20 exons and compared them with immunohistochemistry studies for dystrophin . ^^^ The immunohistochemistry exam for dystrophin is still the gold standard method for DMD / BMD diagnosis . ^^^ All BMD patients presented deletions on the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
OBJECTIVE : To establish a specific technique for diagnosing and classifying Duchenne muscular dystrophy ( DMD ) , Becker muscular dystrophy ( BMD ) , facioscapulohumeral muscular dystrophy ( FSHD ) and neurologic dystrophy . ^^^ Eleven BMD patients had discontinuous or a patchy positive staining pattern , and all of 10 FSHD and 10 neurological amyotrophic patients showed positive dystrophin staining . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
On the other hand , less pronounced deficiencies in dystrophin expression in BMD patients and DMD / BMD carriers may not always be detected in muscle biopsies . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
METHODS : Muscle dystrophin analysis led to the diagnosis of BMD in 6 patients complaining of EMP . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and Becker muscular dystrophy ( DMD and BMD ) are progressive disorders , which almost exclusively affect males . ^^^ BMD , a more varying phenotype which may overlap with limb girdle muscular dystrophy ( LGMD ) , has a less severe muscle weakness which starts later than in DMD patients . ^^^ The dystrophin gene ( 2 . 4 Mb ) , known to be involved in DMD / BMD , codes for a 427 kilodalton muscle specific protein named dystrophin as well as several tissue specific isoforms . ^^^ Molecular genetic analysis , highlighted a phenomenon called germinal mosaicism , which explains the recurrence of de novo mutations and led to the discovery of the so called reading frame rule , which helps to discriminate between DMD and BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin was reduced , and nNOS was absent or reduced in the sarcolemma region of Becker muscular dystrophy ( BMD ) patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , absent in DMD and reduced in the milder form Becker Muscular Dystrophy ( BMD ) , binds to several membrane associated proteins known as dystrophin associated proteins ( DAPs ) . ^^^ In the present study , we analyzed the expression of AQP 4 in several DMD / BMD patients of different ages with different mutations in the dystrophin gene . ^^^ Immunofluorescence results indicate that , compared with healthy control children , AQP 4 is reduced severely in all the DMD muscular biopsies analyzed and in 50 % of the analyzed BMD . ^^^ These experiments provide the first evidence of AQP 4 reduction in a human pathology and show that this deficiency is an important feature of DMD / BMD . . ^^^ Dystrophin , absent in DMD and reduced in the milder form Becker Muscular Dystrophy ( BMD ) , binds to several membrane associated proteins known as dystrophin associated proteins ( DAPs ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are 10 linked recessive genetic disorders resulting from mutations in the dystrophin gene . ^^^ The remaining DMD / BMD cases show no deletions , so they can not be easily identified by current strategies . ^^^ In these DMD / BMD families , a linkage analysis that involves DNA markers of the flanking and intragenic dystrophin gene are necessary for carrier and prenatal diagnosis . ^^^ We analyzed eighteen deletion prone exons of the gene by a polymerase chain reaction ( PCR ) in order to characterize the molecular defects of the dystrophin gene in Korean DMD / BMD families . ^^^ This study will be helpful for a molecular diagnosis of DMD / BMD families in the Korean population . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We report for the last 1 year and 9 months results of the molecular diagnosis of Duchenne ( DMD ) and Becker ( BMD ) muscular dystrophy at Kobe University . ^^^ Analysis was done on 87 patients belonging to 76 families ( 66 DMD cases , 10 BMD cases ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
PURPOSE : To correlate the electroretinography ( ERG ) findings in patients with Duchenne / Becker muscular dystrophy ( D / BMD ) with the genotype and evaluate the ERG findings in DMD carriers . ^^^ MATERIALS AND METHODS : Fifteen deletion positive patients with DMD , two deletion positive patients with BMD and six DMD carriers in two families having a positive disease history were evaluated with DNA analysis , ophthalmologic and ERG findings . ^^^ CONCLUSION : ERG findings in D / BMD patients may show some correlations with molecular analysis , whereas it is not useful in DMD carriers . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne ' s and Becker ' s muscular dystrophy ( DMD & BMD ) is a 10 linked disease caused by mutations in the dystrophic gene . ^^^ DMD is the malign form of the disease , which significantly shortens the lifetime of the patient , while BMD has late onset with slow progression . ^^^ Sixty five percent of DMD and BMD cases are caused by deletion of one or more exons in the dystrophic gene , while duplications cause these diseases in 6 to 7 % of the cases . ^^^ The remaining 30 % of DMD and BMD cases are caused by point mutations , small deletions or inversions in the dystrophic gene . ^^^ The correlation between the severity of the disease and the position of deletion shows that most of the out of frame deletions cause DMD phenotype , while in frame deletions result in BMD phenotype . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The molecular background of an intermediate type of dystrophinopathy [ Duchenne and Becker muscular dystrophy ( DMD / BMD ) ] remains to be clarified , and out of frame and in frame mutations of the dystrophin gene are shown to be causes of DMD and BMD , respectively . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
OBJECTIVE : The deletion in the dystrophin gene has been reported for many ethnic groups , but until now the mutations in this gene have not been thoroughly investigated in Saudi patients with Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) . ^^^ The aim of this study is to describe the outcome of our initial effort to identify mutations in the dystrophin gene in a representative group of Saudi patients with DMD and BMD . ^^^ METHODS : Genomic deoxyribose nucleic acid was isolated from 41 patients with DMD and BMD ( 27 patients confirmed by muscle biopsy and 14 patients with clinical suspicion ) , 3 patients with limb girdle muscular dystrophy , 12 male relatives of the patients , and 5 healthy Saudi volunteers . ^^^ RESULTS : The deletion of one or more exons was found in 21 of 27 DMD and BMD patients confirmed by muscle biopsy . ^^^ The PCR based deletion analysis provides a reasonable first step in the diagnostic care of Saudi patients who may be afflicted with DMD and BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Deficiency of dystrophin in skeletal muscles is supposed to be responsible for all the symptoms associated with Duchenne dystrophy ( DMD ) and Becker dystrophy ( BMD ) . ^^^ As sulfhydryl groups are involved in maintaining the structure of membranes and the protein phospholipid interactions , total , protein bound and free sulfhydryl groups ( SH ) in DMD , BMD , limb girdle dystrophy ( LGMD ) and the mdx mice muscles have been determined . ^^^ A significant decrease of total and protein bound SH groups content and an increased proportion of free SH groups in DMD and BMD was found . ^^^ In early stages of DMD and BMD the albumin influx was increased . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DMD and BMD are 10 lined recessive disorders . ^^^ RAP PCR was utilized to investigate differentially expressed gene transcripts in lymphocytes from DMD , BMD and normal individuals as possible diagnostic parameter . ^^^ A 1583 bp transcript was found to be expressed in both DMD and BMD patients which was unrelated to the known dystrophin gene . ^^^ This may prove helpful in determining the carrier status of DMD / BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophinopathies are due to mutations in the dystrophin gene on chromosome Xp21 . 1 and comprise the allelic entities Duchenne muscular dystrophy ( DMD ) , Becker muscular dystrophy ( BMD ) and 10 linked dilative cardiomyopathy ( XLDCM ) . ^^^ In DMD / BMD , the left ventricular posterobasal and lateral walls are most extensively affected , sparing the right ventricle and the atrium . ^^^ In DMD / BMD , CI usually remains subclinical in the early stages of the disease . ^^^ Typical initial manifestations of CI in DMD / BMD are sinus tachycardia , tall R 1 in V 1 , prominent Q in 1 , aVL , V 6 or in 2 , 3 , and aVF , increased QT dispersion and possibly autonomic dysfunction . ^^^ Subclinical or clinical CI is present in about 90 % of the DMD / BMD patients but is the cause of death in only 20 % of the DMD and 50 % of the BMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Trans acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles . ^^^ We analyzed dystrophin alternative splicing events in a large number of Becker muscular dystrophy ( BMD ) affected individuals presenting major hot spot deletions . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophy ( DMD and BMD ) , as well as 10 linked dilated cardiomyopathy . ^^^ Deletions of one or more exons account for 55 % 65 % of cases of DMD and BMD , and a multiplex polymerase chain reaction method currently the most widely available method of mutational analysis detects approximately 98 % of deletions . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Despite introducing a ( larger ) deletion , an in frame transcript is generated that allows the synthesis of a slightly shorter , but largely functional dystrophin as found in the mostly milder Becker muscular dystrophy ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
As such , chimeraplast mediated exon skipping has the potential to be used to transform a severe DMD phenotype into a much milder BMD phenotype . . ^^^ Any therapeutic modality that could restore the reading frame would have the potential to substantially reduce the severity of the disease by allowing the production of an internally deleted , but partially functional , dystrophin protein as occurs in Becker muscular dystrophy ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We report the characterization of two deep intronic mutations in the Duchenne muscular dystrophy ( DMD ) gene of two unrelated Becker muscular dystrophy ( BMD ) patients , causing the aberrant inclusion of a pseudoexon in the mature transcripts . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Biopsied frozen muscles from patients with Duchenne muscular dystrophy ( DMD ) , Becker muscular dystrophy ( BMD ) , and congenital muscular dystrophy ( CMD ) were analysed immunohistochemically using antibodies raised against PDGF A , PDGF B , and PDGFR alpha and beta . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The dystrophin gene was analyzed in 8 Duchenne muscular dystrophy ( DMD ) and 10 Becker muscular dystrophy ( BMD ) unrelated families ( 22 subjects : 18 index cases and 4 sibs ) for the presence of deletions by multiplex polymerase chain reaction ( mPCR ; 27 exons ) and Southern hybridization using 8 cDMD probes . ^^^ Deletions were identified in 5 DMD and 7 BMD patients ( 6 index cases and 1 sib ) . ^^^ The female relatives of DMD / BMD patients with identifiable deletions were examined by quantitative mPCR . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
These mutations result in the Duchenne and Becker muscular dystrophies ( DMD and BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To evaluate the hypothesis in Indian D / BMD patients , we analyzed deletion of dystrophin exons in 147 DMD and 19 BMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Analyses of deletions in the dystrophin gene and of cognitive status were performed on patients with Duchenne ( DMD ) or Becker ( BMD ) muscular dystrophy in order to find a correlation between both features . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
An intragenic deletion / inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype . ^^^ Duchenne and Becker Muscular Dystrophy ( DMD and BMD ) are caused , in the majority of cases , by deletions in the dystrophin gene ( DMD ) . ^^^ Here we describe the unprecedented case of a BMD patient carrying a large out of frame intragenic deletion , together with an inversion in the DMD gene , resulting in the inclusion of a novel exon in the transcript . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
This prompted us to determine if transfection of full length dystrophin or Becker Muscular Dystrophy ( BMD ) minidystrophin , a candidate for viral mediated gene therapy , could change calcium handling properties . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
This allows the synthesis of largely functional Becker muscular dystrophy ( BMD ) like dystrophins and potential conversion of severe DMD into milder BMD phenotypes . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Splicomer reagents directed to Duchenne muscular dystrophy ( DMD ) RNAs might thus circumvent nonsense or frame shifting mutations , leading to therapeutic expression of partially functional dystrophin , as occurs in the milder , allelic ( Becker ) form of the disease ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne and Becker muscular dystrophy ( DMD and BMD ) are caused by mutations in the dystrophin gene . ^^^ DGGE mutation scanning was applied to analyze 135 DMD / BMD patients and potential DMD carriers without large deletions or duplications . ^^^ In DNA from 25 out of 44 DMD patients ( 57 % ) and from 5 out of 39 BMD patients ( 13 % ) , we identified clear pathogenic changes . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
AIM : Since growth hormone ( GH ) has proven beneficial in experimental heart failure , and the natural history of Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) is frequently complicated by the development of dilated cardiomyopathy , we administered GH to six patients with DMD and 10 with BMD , with the evidence of cardiac involvement . ^^^ In GH treated patients , left ventricular ( LV ) mass increased by 16 % in BMD and by 29 % in DMD ( both p < 0 . 01 ) , with a significant increase of relative wall thickness ( +19 % ) . ^^^ Systemic blood pressure remained unchanged , while LV end systolic stress fell significantly by 13 % in BMD and by 33 % in DMD , with a slight increase of systolic function indexes . ^^^ CONCLUSIONS : The 3 month GH therapy in patients with DMD and BMD induces a hypertrophic response associated with a significant reduction of brain natriuretic peptide plasma levels and a slight improvement of systolic function , no changes in skeletal muscle function , and no side effects . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are common 10 chromosomal recessive disorders caused by mutations in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutation detection in the DMD gene defective in Duchenne ( DMD ) and Becker muscular dystrophies ( BMD ) is complicated by the presence of 79 exons . ^^^ Here we report the use of the newly developed quantitative assay multiplex ligation dependent probe amplification ( MLPA ) to determine the copy number of each of the 79 DMD exons in 182 males and 14 carrier females referred to our diagnostic facility on the clinical suspicion of DMD or BMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
OBJECTIVE : To examine alendronates side effect profile and effect on bone mineral density ( BMD ) in deflazacort treated boys with Duchennes muscular dystrophy ( DMD ) and low BMD . ^^^ PARTICIPANTS : All consenting boys with DMD who had z scores less than 1 . 00 ( spine and / or total body ) and in whom BMD testing was feasible . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Interestingly , they are absent from dystrophin deficient sarcolemma of DMD muscle , and colocalize with partially expressed dystrophin in BMD muscle . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in the DMD gene result in Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
As a result of these observations , a number of laboratories worldwide have engineered a series of microdystrophin cDNAs based on genotype phenotype relationship in Duchenne ( DMD ) and Becker ( BMD ) dystrophic patients , and transgenic studies in mdx mice . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Immunohistochemistry using antibodies to dystrophin is the pathological basis for the diagnosis of Duchenne and Becker muscular dystrophy ( DMD and BMD ) . ^^^ While the sarcolemma of DMD muscle is negative , BMD muscle generally shows variable labelling because of the translation of a partially functional dystrophin that is localized to the sarcolemma . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Partial gene deletion is the major type of mutation leading to Duchenne muscular dystrophy ( DMD ) and its mild allelic form , Becker muscular dystrophy ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A milder form of the disease , Becker muscular dystrophy ( BMD ) , is characterized by the presence of a semifunctional truncated dystrophin , or reduced levels of full length dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
About 60 % of both Duchenne ' s muscular dystrophy ( DMD ) and Becker ' s muscular dystrophy ( BMD ) is due to deletions of dystrophin gene . ^^^ To test the validity of this theory , we analyzed 40 patients 19 independent deletions at the DMD / BMD locus . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are caused in the majority of cases by deletions of the DMD gene and are readily detectable in affected males by multiplex polymerase chain reaction ( PCR ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have investigated the frequency of deletions in the dystrophin gene in 108 unrelated Duchenne and Becker muscular dystrophy ( DMD / BMD ) patients from southern Italy ( DMD , n . 47 ; BMD , n . 61 ) and identified 89 deletions . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Immunohistochemical staining for dystrophin revealed significant loss of dystrophin along the sarcoplasmic membrane of the right biceps brachii muscle , compatible with BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophies ( DMD and BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A milder form of the disease , Becker muscular dystrophy ( BMD ) , is characterised by the presence of a semi functional truncated dystrophin , or the full length dystrophin at reduced level . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
RESULTS : Ten patients had Duchenne muscular dystrophy ( DMD ) and 10 Becker muscular dystrophy ( BMD ) . ^^^ GET was significantly more delayed in MD patients ( DMD , median : 195 min ; range 150 260 min ; BMD , median : 197 min ; range : 150 250 min ) than in controls ( median : 150 min ; 110 180 min ; p < 0 . 05 ) ; it markedly worsened at the follow up in DMD ( median : 270 min ; range 170 310 min ; p < 0 . 001 vs controls ) but not in BMD patients ( median : 205 min ; 155 275 min ; p < 0 . 05 vs DMD ) . ^^^ However , at the follow up no significant change in the prevalence of normal rhythm and dysrhythmias occurred in both groups ( ns vs baseline values ) , whereas only DMD patients showed a marked reduction in fed to fasting power ratio ( 0 . 78 + / 0 . 59 ; p < 0 . 001 vs controls and BMD ; p < 0 . 05 vs baseline ) , which correlated with the progressive neuromuscular weakness occurring in DMD subjects ( r , 0 . 75 ; p < 0 . 001 ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We assessed the cardiac findings in Duchenne muscular dystrophy ( DMD ) and Becker Kiener muscular dystrophy ( BMD ) patients in the large outpatient group of our single center institution . ^^^ Reduced left ventricular fraction shortening ( FS ) < 25 % was found in 24 % of all patients ( 50 DMD , 12 . 1 + / 4 . 7 years : 20 BMD , 17 . 1 + / 8 . 5 years ) . ^^^ Median age of onset of FS < 25 % was 16 . 8 + / 1 . 0 in DMD and 30 . 4 + / 3 . 4 in BMD ; ( p < 0 . 05 ) . ^^^ For these reasons , we recommend carrying out echocardiography annually in DMD and BMD > 10 years . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Biglycan mRNA levels varied in DMD and MDC1A depending on the quantitation method , but were upregulated in BMD , sarcoglycanopathies and dysferlinopathy . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
This allows the synthesis of largely functional dystrophin proteins and potential conversion of severe DMD into milder Becker muscular dystrophy ( BMD ) phenotypes . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy and Becker muscular dystrophy ( DMD and BMD ) are caused by mutations in the dystrophin gene ( Xp 21 ) . ^^^ In two thirds of DMD / BMD cases , the mutation is a large deletion of one or several exons . ^^^ We have established PGD for DMD / BMD using interphase fluorescence in situ hybridization ( FISH ) analysis on single nuclei from blastomeres for the detection of deletions of specific exons in the dystrophin gene . ^^^ We performed PGD for two carrier females ; one had a deletion of exons 45 50 ( DMD ) , and the other had a deletion of exons 45 48 ( BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Both Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are caused by mutations of the 10 linked dystrophin gene . ^^^ BMD patients are less affected clinically than DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND : Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) are 10 linked recessive , allelic disorders . ^^^ This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chinese patients with Duchenne or Becker muscular dystrophy ( DMD / BMD ) , and to study genotype phenotype correlation . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND : Dystrophin gene mutations cause 2 common muscular dystrophies , Duchenne muscular dystrophy ( DMD ) and Becker muscular dystrophy ( BMD ) . ^^^ We hypothesized that early diagnosis and treatment of DCM in DMD / BMD patients would lead to ventricular remodeling and that specific dystrophin gene mutations would predict cardiac involvement . ^^^ METHODS AND RESULTS : Sixty nine boys with DMD ( n=62 ) and BMD ( n=7 ) ( mean age , 12 . 9 and 13 . 7 years , respectively ) were referred to our Cardiovascular Genetics Clinic for evaluation , including echocardiography and DNA analysis . ^^^ DCM was diagnosed in 31 subjects ( DMD , 27 / 62 , 44 % ; BMD , 4 / 7 , 57 % ) ( mean age at onset , 15 . 4+ / 2 . 8 years ; range , 10 . 4 to 21 . 2 years ) . ^^^ On follow up ( n=29 ) , 2 subjects ( both DMD ) showed stable DCM , 8 subjects ( all DMD ) showed improvement , and 19 subjects ( 16 DMD ; 3 BMD ) showed normalization of left ventricular size and function ( total improvement , 27 / 29 [ 93 % ] ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Associations between clinical phenotype ( muscle weakness , dilated cardiomyopathy ) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne ( DMD ) and Becker muscular dystrophy ( BMD ) were investigated . ^^^ No associations between dystrophin abnormalities and clinical variables in DMD / BMD carriers were found . ^^^ Because 26 % of nonmanifesting carriers have dystrophin negative fibers , this might be used in suspected DMD / BMD carriers in whom DNA analysis fails to give an answer about their carrier risk . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
OBJECTIVE : To review the recent research progress in dystrophin related muscular dystrophy includes 10 linked hereditary Duchenne and Becker muscular dystrophies ( DMD and BMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Linkage analysis of five marker loci in and around the Duchenne muscular dystrophy ( DMD ) locus , DXS 84 , DXS 206 , DXS 164 , DXS 270 , and DXS 28 , was conducted with 499 families . ^^^ Overall , the best multipoint distances were found to be DXS 84 3 . 7 + / 0 . 6 cM DXS 206 1 . 0 + / 0 . 4 cM DXS 164 1 . 9 + / 0 . 6 cM DXS 270 12 . 0 + / 1 . 1 cM DXS 28 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
One of the boys with DMD , GK , and AHC is shown by pulsed field gel electrophoresis to have a deletion which has a proximal endpoint at least 500 kb distal from the pERT 87 ( DXS 164 ) locus . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The following order of loci is proposed : centromere OTC cX 5 ( DXS 148 ) 754 ( DXS 84 ) PERT 87 ( DXS 164 ) / DMD telomere . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Deletions within the dystrophin gene ( DMD ) account for > 70 % of mutations leading to Duchenne and Becker muscular dystrophies ( DMD and BMD ) . ^^^ Mapping of breakpoints in 26 BMD / DMD patients indicated that the frequency of breakpoint occurrence around this region is 3 fold higher than expected by chance . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The detection of duplications in Duchenne ( DMD ) / Becker Muscular Dystrophy ( BMD ) has long been a neglected issue . ^^^ We report here the detection and analysis of 118 duplications in the DMD gene of DMD / BMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Restriction fragment length polymorphism analysis was used to examine a female who is segregating for Duchenne muscular dystrophy ( DMD ) and a deletion of the DXS 164 region of the 10 chromosome . ^^^ The segregating female has no prior family history of DMD , and she has two copies of the DXS 164 region in her peripheral blood lymphocytes . ^^^ The following two hypotheses are proposed to explain the coincidence of the DMD phenotype and deletion of the DXS 164 region in her offspring : ( 1 ) she may be a gonadal mosaic for cells with two normal 10 chromosomes and cells with one normal 10 chromosome and an 10 chromosome with a deletion of the DXS 164 region ; and ( 2 ) she may carry a familial 10 ; autosome translocation in which the DXS 164 region is deleted from one 10 chromosome and translocated to an autosome . ^^^ The segregation of DMD and the DXS 164 deletion in this family illustrates the importance of extended pedigree analysis when DXS 164 deletions are used to identify female carriers of the DMD gene . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Recombination with DXS 84 and DXS 164 places CLS distal to DMD in Xp 21 pter . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Ten polymorphic DNA markers , including gene specific markers of loci DXS 164 and DXS 206 , were tested for allele frequencies , degree of heterozygosity and linkage in 34 Finnish families with 10 linked muscular dystrophy . ^^^ Our linkage data include one recombination between DMD and DXS 164 enabling a tentative location of the mutation site distal to DXS 164 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A second minor recombination prone region was found between DXS 206 , ( XJ , in the large intron 7 ) and the 5 ' end of the DMD gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Two deletions detected within the Duchenne / Becker muscular dystrophy ( D / BMD ) gene of normal male members of two DMD families were both independent , nonpathogenic deletions located in a large intron in the XJ region ( DXS 206 ) toward the 5 ' end of the gene [ Burghes et al . , 1987 ] . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Linkage of XLCM to the centromeric portion of the dystrophin or Duchenne muscular dystrophy ( DMD ) locus at Xp 21 was demonstrated with combined maximum logarithm of the scores of +4 . 33 , theta = 0 with probe XJ1 . 1 ( DXS 206 ) using two point linkage and +4 . 81 at XJ1 . 1 with multipoint linkage analysis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Long range genomic map of the Duchenne muscular dystrophy ( DMD ) gene : isolation and use of J 66 ( DXS 268 ) , a distal intragenic marker . ^^^ By cloning the endpoints of a DMD associated deletion , we have `` jumped ' ' 1100 kb from pERT 87 1 ( DSX 164 ) to a new locus designated J 66 ( DXS 268 ) , mapping distally within the Duchenne muscular dystrophy ( DMD ) gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A rare MspI RFLP of the DMD probe p 20 ( DXS 269 ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A new polymorphism for the dystrophin intragenic probe P 20 [ DXS 269 ] using BstX 1 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A 300 bp EcoRV polymorphism , detected with P 20 ( DXS 269 ) in intron 44 of the human dystrophin gene , is due to an insertion or deletion . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin function is not clear but our results raise the possibility that this protein may be involved in the cognitive impairment observed in several Duchenne muscular dystrophy ( DMD ) patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The results from molecular genetic analysis of some mutations in the 10th and 11th exons of cystic fibrosis transmembrane regulator ( CFTR ) gene as well as of deletions in the 8 , 17 , 19 , 43 , 50 , 60th exons of dystrophin gene in 61 CF families and 21 DMD families from different Ukraine regions are presented . ^^^ The analyzed deletions of dystrophin gene were revealed only among 6 DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Analysis of a polymerase chain reaction amplified product of the DXS 164 locus in the dystrophin gene . ^^^ Capillary electrophoresis ( CE ) was used to characterize restriction fragment length polymorphism ( RFLP ) in a polymerase chain reaction ( PCR ) amplified product of a 740 base pairs DNA fragment from the DXS 164 locus of the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In Duchenne muscular dystrophy ( DMD ) , deficiency of the protein dystrophin results in necrosis of muscle myofibres , associated with lesions in the sarcolemma and surrounding basal lamina . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The 14kb dystrophin transcript from the Duchenne muscular dystrophy ( DMD ) locus , which encodes a 427kDa protein , is differentially spliced at the amino terminal end giving rise to alternative transcripts expressed in muscle and brain . ^^^ Here we present evidence for a 4 . 8kb transcript from the DMD locus which is ubiquitously expressed but is particularly abundant in Schwannoma cells where dystrophin could not be detected . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Muscle biopsy from both cases revealed a clear abnormality of dystrophin , and were diagnosed as having Duchenne muscular dystrophy ( DMD ) by immunofluorescence examination ; that is , absent dystrophin at the membrane of the muscle fibers . ^^^ The clinical spectrum of DMD related myopathies and the importance of dystrophin testing in childhood muscular dystrophies is discussed . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The known Duchenne muscular dystrophy ( DMD ) gene products , the muscle and brain type dystrophin isoforms , are 427 kDa proteins translated from 14 kilobase ( kb ) mRNAs . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The central portion of the dystrophin gene locus is a preferential site for deletions causing progressive muscular dystrophy of the Duchenne type ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The majority of Duchenne muscular dystrophy ( DMD ) female carriers show dystrophin immunostaining abnormalities , although a significant proportion of clinically non manifesting carriers are normal following this analysis . ^^^ We had the opportunity to study dystrophin immunostaining in two different muscles , the vastus lateralis and the rectus abdominis of a possible DMD carrier . ^^^ These findings seem to indicate that dystrophin expression can vary in different muscle groups of a DMD carrier . ^^^ The implications of these findings in DMD carrier detection and possible dystrophin function are discussed . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The protein dystrophin is lacking in DMD and present , but defective , in the allelic , less severe , Becker muscular dystrophy and is also missing in the mdx mouse . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Histological examination of skeletal muscle revealed myopathic changes and immunostaining with anti dystrophin antiserum demonstrated a mosaic pattern which are compatible with the observations in carriers of DMD . ^^^ Southern blots using the dystrophin cDNA revealed no evidence of a deletion within the DMD gene in the patient or in her mother . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
This mRNA differs in coding content and tissue distribution from the known muscle type and brain type 14 kb DMD mRNAs which code for dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein product defective in Duchenne muscular dystrophy ( DMD ) , is present in all types of muscle and in the brain . ^^^ We have therefore studied the localisation of dystrophin in cultures of normal and DMD human fetal neurons using antibodies raised to different regions of the protein . ^^^ Studies of cells cultured from a DMD fetus also showed specific dystrophin immunostaining in neurons , although the muscle was generally negative for dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
For the study of the structure and function relationship of dystrophin , defective in DMD , and for diagnostic purposes it is important to dispose of antibodies against different parts of the protein . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Diagnosis and carrier detection for Duchenne muscular dystrophy ( DMD ) have been improved , new isoforms of dystrophin have been identified , and gene transfer studies have raised the prospects for gene therapy . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Characterization of the human chromosome 6 related analogue of dystrophin led to the discovery that in Duchenne muscular dystrophy ( DMD ) this molecule is expressed diffusely at the muscle cell surface and could , in part , compensate for the dystrophin deficiency of DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the product of the Duchenne muscular dystrophy ( DMD ) gene , was studied in muscle from 16 human fetuses at risk for the disease . ^^^ These results indicate that careful study of dystrophin in fetuses at risk for DMD can be used to establish the clinical phenotype and provide additional information for future family counselling . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Deficiency of the 50K dystrophin associated glycoprotein in severe childhood autosomal recessive muscular dystrophy . 10 linked recessive Duchenne muscular dystrophy ( DMD ) is caused by the absence of dystrophin , a membrane cytoskeletal protein . ^^^ In DMD , the absence of dystrophin leads to a large reduction in all of the dystrophin associated protein . ^^^ We have investigated the possibility that a deficiency of a dystrophin associated protein could be the cause of severe childhood autosomal recessive muscular dystrophy ( SCARMD ) with a DMD like phenotype . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In about 65 % of the cases of Duchenne muscular dystrophy ( DMD ) a partial gene deletion or duplication in the dystrophin gene can be detected . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
When recombination occurs within the DMD gene , or DNA analysis is uninformative , or in pedigrees where it is unclear whether or not the consultand is a carrier , direct examination of muscle by dystrophin analysis may provide the only means of prenatal diagnosis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein product of the Duchenne muscular dystrophy ( DMD ) gene locus , is expressed on the muscle fiber surface . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DMD is characterized by a defect in a protein , dystrophin , that is located predominantly in muscle but has been detected in brain . ^^^ The PSD from the mdx mouse , a model of human DMD , contained no detectable 400 kDa dystrophin but expressed the two dystrophin related proteins . ^^^ Our results indicate that brain dystrophins are localized to the PSD , potentially as three isoforms , and raise the possibility that cognitive abnormalities in DMD are attributable to synaptic dysfunction associated with deficits in brain dystrophin molecules . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In the absence of dystrophin in Duchenne muscular dystrophy ( DMD ) patients , DRP is also present in the sarcolemma . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Detection of molecular deletions in the Chinese DMD patients using two amplified dystrophin sequences . ^^^ This Brief Communication reports the detection of molecular deletions in Chinese DMD patients using two new amplified dystrophin DNAs involving the regions of exon 49 and 50 . ^^^ The results show that over 50 % of the DMD deletions can be rapidly detected by PCR amplification of these two dystrophin sequences . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is a cytoskeletal protein which is thought to play an important role in membrane physiology since its absence ( due to gene deficiency ) leads to the symptoms of Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) results from mutations in the 10 linked gene coding for the muscular protein dystrophin . ^^^ However , the relatively large size of the gene and the high frequency of recombination and mutation events within the dystrophin locus continue to pose difficulties in the genetic counselling and prenatal diagnosis of DMD , and render the conclusions of molecular analysis less clear cut . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Gene delivery by transplantation of normal myoblasts has been proposed as a treatment of the primary defect , lack of the muscle protein dystrophin , that causes Duchenne muscular dystrophy ( DMD ) , a lethal human muscle degenerative disorder . ^^^ To test this possibility , we transplanted normal myoblasts from a father or an unaffected sibling into the muscle of eight boys with DMD , and assessed their production of dystrophin . ^^^ These results show that transplanted myoblasts persist and produce dystrophin in muscle fibres of DMD patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Somatic reversion / suppression in Duchenne muscular dystrophy ( DMD ) : evidence supporting a frame restoring mechanism in rare dystrophin positive fibers . ^^^ Many Duchenne muscular dystrophy ( DMD ) patients are known to have rare staining dystrophin positive fibers , termed `` revertants . ' ' The precise etiology of these rare fibers is unknown . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Two thirds of DMD patients carry detectable deletions in their dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne ' s muscular dystrophy ( DMD ) is caused by the absence or drastic decrease of the structural protein , dystrophin , and is characterized by sarcolemmal lesions in skeletal muscle due to the stress of contraction . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The second type has the features of the typical Duchenne muscular dystrophy ( DMD ) and has abnormal dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is characterized by a lack of dystrophin expression . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Rapid advances in the molecular genetics of Duchenne muscular dystrophy ( DMD ) and the discovery and localization of the gene product dystrophin has brought new hope that successful treatment for this disease may not be too far away . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the 427 10 10 ( 3 ) Mr product of the Duchenne muscular dystrophy ( DMD ) gene , was studied in human foetal skeletal muscle from 9 to 26 weeks of gestation . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
About one third of Duchenne muscular dystrophy ( DMD ) patients have no gross DNA rearrangements in the dystrophin gene detectable by Southern blot analysis or multiplex exon amplification . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in the dystrophin gene produce clinical manifestations of disease in heart , brain , and skeletal muscle in patients with Duchenne and Beckers muscular dystrophy ( DMD / BMD ) . ^^^ These results suggest that dystrophin may be an important molecule for membrane function in the Purkinje conduction system of the heart and support the hypothesis that defective dystrophin expression contributes to the cardiac conduction disturbances seen in DMD / BMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Thomas Caskey , in summarizing the meeting , noted that phenotypic correction of DMD is likely to require restoration of the dystrophin protein ; thus , this disease is a logical target for consideration of gene replacement therapy . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
An improved method by quantitative dystrophin gene deletion analysis was developed for the detection of Duchenne / Becker muscular dystrophy ( DMD / BMD ) carriers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein product of the Duchenne muscular dystrophy ( DMD ) gene , is deficient in patients with DMD and in mdx mice . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
An unusual case of infantile onset Duchenne muscular dystrophy ( DMD ) with an internal 3 ' genomic deletion , and a membrane localized non functional dystrophin protein , was used to explore the functional activity of this region . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We performed immunocytochemical studies of the localization of dystrophin on aneurally cultured non contracting ( AMs ) and innervated continuously contracting cross striated human muscle fibers ( ICMs ) with fetal rat spinal cord from normal and Duchenne muscular dystrophy ( DMD ) biopsied muscles . ^^^ Both AMs and ICMs from DMD had negative staining of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A homologue of dystrophin is expressed at the neuromuscular junctions of normal individuals and DMD patients , and of normal and mdx mice . ^^^ This protein is also expressed at the NMJ of a DMD patient who lacks the first 52 exons of the Xp 21 dystrophin gene and it must therefore be translated from a different gene transcript . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin immunohistochemical studies in muscle from Duchenne patients ( DMD ) have shown a population of fibers with partial labelling . ^^^ In order to determine whether this is related to a cross reaction or to the presence of dystrophin . 22 DMD patients were studied immunohistochemically , through the concomitant use of antibodies from the N terminal and the C terminal regions of the protein . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In the last one , with 3 affected patients , no DNA deletions were detected but immunohistochemical study of muscle biopsies showed a negative dystrophin pattern typical of DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The 33 patients suffering from the Duchenne muscular dystrophy ( DMD ) , 7 healthy donors and a DMD risk family were studied by means of polymerase multiplex chain reaction ( MPCR ) with 6 oligoprimer pairs for 6 different exons of dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Localization of the DMDL gene encoded dystrophin related protein using a panel of nineteen monoclonal antibodies : presence at neuromuscular junctions , in the sarcolemma of dystrophic skeletal muscle , in vascular and other smooth muscles , and in proliferating brain cell lines . mAbs have been raised against different epitopes on the protein product of the DMDL gene , which is an autosomal homologue of the 10 linked DMD gene for dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The discovery and characterization of the 10 linked gene which is defective in Duchenne muscular dystrophy ( DMD ) and of its protein product , dystrophin , has led to the identification of biochemical homologues of this disease in the mouse , the dog and the cat . ^^^ All three animal models resemble DMD in that they lack dystrophin and that their skeletal muscle fibres undergo spontaneous necrosis and regeneration . ^^^ Moreover , the dystrophic mouse and dog are readily bred as colonies , thus providing consistent material for investigating the function of dystrophin and for testing methods of replacing its function or compensating for the absence of this function in the muscles of DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is caused by mutations that impair normal production of dystrophin in muscle and brain tissues . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Thus we established that this peptide sequence is in fact missing in the protein product ' dystrophin ' encoded by the DMD gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In DMD carrier muscles , the greatest alterations in MHC expression were observed in patients with the most reduced dystrophin expression . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Since dystrophin , the protein absent in muscles of boys with DMD , is produced also in the brain , it was postulated that the deficiency of brain dystrophin might account for the mental retardation found in DMD boys . ^^^ The mdx mouse , a mouse model of DMD , fails to produce dystrophin in muscle and brain . ^^^ Our data reinforce the view that brain dystrophin deficiency is correlated with cognitive dysfunction and indicate that mdx mice might be a model for the mental retardation found in DMD boys . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The gene corresponding to the DMD locus produces a 14 kilobase ( kb ) messenger RNA that codes for a large cytoskeletal membrane protein , dystrophin . ^^^ DMD and Becker ' s muscular dystrophy are the consequences of dystrophin mutations . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In 32 unrelated DMD patients originating from Slovakia ( Czechoslovakia ) , screening for deletions in the dystrophin gene was performed with cDNA probes Cf56a , Cf56b , 1 2a , 2b 3 4 5a , 5b 7 , and 8 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Genotype phenotype correlation and germline mosaicism in DMD / BMD patients with deletions of the dystrophin gene . ^^^ The molecular analysis of 127 DMD / BMD patients showed that 73 of them ( 57 % ) had deletions in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The clinical course and prognosis of Duchenne muscular dystrophy ( DMD ) was compared in patients with deletions of the gene for dystrophin ( cDMD ) and those without such deletions . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although murine 10 linked muscular dystrophy ( mdx ) and Duchenne muscular dystrophy ( DMD ) are genetically homologous and both characterized by a complete absence of dystrophin , the limb muscles of adult mdx mice suffer neither the detectable weakness nor the progressive degeneration that are features of DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Such cases can be distinguished from 10 linked DMD through the analysis of dystrophin . ^^^ Fifty DMD patients from 47 families were investigated for dystrophin and DNA deletions . ^^^ Such an estimate must be confirmed in a larger sample ; however , it shows the importance of assessing dystrophin in all patients diagnosed as DMD in whom 10 linked inheritance can not be proved , since the distinction between these 2 forms has implications for genetic counseling . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Based on current hypotheses , characterization of dystrophin expression of this cohort allows us to predict a DMD phenotype in all 8 boys . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A two year old symptomatic carrier of Duchenne muscular dystrophy ( DMD ) confirmed by dystrophin immunohistochemical study was reported . ^^^ This case shows that dystrophin immunohistochemistry is useful for diagnosis of a DMD carrier without affected family members . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although DNA analysis by Southern blotting with complementary DNAs representing the whole of the dystrophin coding sequence detected neither gross deletions nor duplications , immunohistochemistry and Western blotting of the biopsied skeletal muscle with an antidystrophin monoclonal antibody ( dystrophin test ) showed that the approximately 400 kd dystrophin was expressed normally at the sarcoplasmic membrane of the FCMD phenotype patient but was completely absent in the DMD phenotype patient . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A total of 162 Duchenne ( DMD ) patients and two girls with a DMD phenotype were analysed for deletions in the central region of the dystrophin gene in order to determine if there was a correlation between mental retardation ( MR ) and the pattern of deletion . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The results indicate that transfer of the dystrophin gene into the myofibres of DMD patients could be beneficial , but a larger number of genetically modified myofibres will be necessary for clinical efficacy . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A deficiency of dystrophin is common to both the DMD and mdx mouse , an animal model for DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have performed immunohistochemical studies on muscle tissue of three 12 week old fetuses at risk for DMD , using antisera directed against regions located NH 2 proximally and centrally in the rod shaped spectrin like domain and against the COOH terminus of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have analyzed 34 Japanese patients of 31 families with Duchenne muscular dystrophy ( DMD ) by Southern blot and PCR ( polymerase chain reaction ) to detect large deletions in the genomic dystrophin gene on the 10 chromosome . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In this sporadic case of female muscular dystrophy , the identification of dystrophin deficient muscle fibers made it possible to establish an accurate diagnosis of DMD affected female . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In particular , the discovery of `` dystrophin , ' ' the protein product of the DMD gene is truly an epoch making success in the history of muscular dystrophy research . ^^^ Dystrophin is now thought to be a cytoskeletal protein underlying the plasma membrane ( known in muscle as the sarcolemma ) of normal muscle fiber , and is undetectable or greatly reduced in DMD . ^^^ In this review article , dystrophin in normal skeletal muscle and various neuromuscular diseases including DMD / BMD ( Becker muscular dystrophy ) , and its carrier is discussed . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The identification and cloning of the gene responsible for Duchenne muscular dystrophy ( DMD ) and characterization of the protein product of the gene , dystrophin , has led to major advances in diagnostic and genetic counselling procedures for this inherited disorder . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Tissue histology and dystrophin protein analysis demonstrated the absence of DMD . ^^^ However , maternal carrier status remained in doubt through a second pregnancy , even with RFLP studies , and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus . ^^^ The value of dystrophin analysis for establishing the diagnosis of fetal DMD , in this case proving maternal carrier status in a difficult situation , and for demonstrating DMD gene : RFLP haplotype relationships is illustrated . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Recent molecular studies have shown that in a patient with Duchenne muscular dystrophy ( DMD ) Kobe , the size of exon 19 of the dystrophin gene was reduced to 36 bp due to the deletion of 52 bp out of 88 bp of the exon . ^^^ To further elucidate the molecular nature of the defect , we examined the primary structure of cytoplasmic dystrophin mRNA of the DMD Kobe patient across the junctions of exons 18 , 19 , and 20 by gel electrophoresis and sequencing of polymerase chain reaction amplified cDNA . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A highly informative CACA repeat polymorphism upstream of the human dystrophin gene ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In this brief review , we describe the clinical manifestations of Duchenne ' s muscular dystrophy ( DMD ) and other similar syndromes , outline the history of the dystrophin gene ' s identification and its relationship to these muscular dystrophies , and relate the importance of the gene ' s discovery to clinical neurology . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A 25 year old female patient with an approximate 10 year history of slowly progressive muscle weakness was diagnosed as a manifesting carrier of Duchenne muscular dystrophy ( DMD ) because her muscle biopsy showed scattered fibers with no dystrophin on immunohistochemical staining . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein encoded by the Duchenne muscular dystrophy ( DMD ) gene , exists in a large oligomeric complex . ^^^ We show here that four glycoproteins are integral components of the dystrophin complex and that the concentration of one of these is greatly reduced in DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The McLeod locus is adjacent to Duchenne muscular dystrophy ( DMD ) and dystrophin immunocytochemistry showed that expression is normal in muscle from the two McLeod cases in spite of the mild DMD like myopathy . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Intragenic deletions in 164 boys with Duchenne muscular dystrophy ( DMD ) studied with dystrophin cDNA . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Our results demonstrate that CISS hybridization can define the carrier status in female relatives of DMD patients exhibiting a deletion in the dystrophin gene . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Detection of truncated dystrophin in fetal DMD myotubes . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Recent studies have elucidated the molecular defect in DMD , including the absence of the protein dystrophin in affected individuals . ^^^ Dystrophin may have a different role in neurons than in muscle , and an alteration at the synaptic level may be the basis of the cognitive impairment in DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is the gene product affected in Duchenne muscular dystrophy ( DMD ) . ^^^ Dystrophin is demonstrably absent with immunocytochemical staining and undetectable by western blotting of DMD muscles . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein product of the Duchenne muscular dystrophy ( DMD ) gene , was studied in needle biopsy samples taken from the quadriceps muscle of 15 asymptomatic carriers of DMD ( 13 adults and 2 young girls ) and one symptomatic adult carrier . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mosaic pattern of dystrophin in DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
These data indicate that the affected twin is a manifesting carrier of an abnormal DMD gene , her myopathy being a direct result of underexpression of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although these abnormalities were maximally expressed after myoblast fusion , they were already present in mononucleated cells and their connection with the primary defect in DMD , i . e . , lack of dystrophin , must now be clarified . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is encoded by the DMD gene and represents about 0 . 002 % of total muscle protein . ^^^ Immunochemical studies have shown that dystrophin is localized to the sarcolemma in normal muscle but is absent in muscle from DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The Duchenne muscular dystrophy ( DMD ) gene has been localized to chromosome Xp 21 and codes for a 14 kilobase ( kb ) transcript and a protein called dystrophin , of relative molecular mass 427 , 000 . ^^^ Here we report that fragments from the C terminal domain of the DMD complementary DNA detect a closely related sequence which exhibits nucleic acid and predicted amino acid identities with dystrophin of approximately 65 and 80 % , respectively . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have studied three unrelated affected brother / sister pairs and their families for deletions and polymorphisms with the entire dystrophin cDNA and other DNA probes from the Xp 21 region to test for involvement of the DMD locus . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Its deletion causes a frameshift in the dystrophin reading frame and produces the DMD phenotype . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Recently it has been suggested that the protein named `` dystrophin ' ' is not produced in the DMD muscle because of their mutant of defective DMD gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have studied 34 Becker and 160 Duchenne muscular dystrophy ( DMD ) patients with the dystrophin cDNA , using conventional blots and FIGE analysis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein product of the Duchenne muscular dystrophy ( DMD ) gene locus , appeared as an immunoreactive triplet of polypeptides in striated muscle tissues from normal mice on Western blot analysis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is the gene product which is affected in Duchenne muscular dystrophy ( DMD ) . ^^^ We studied differentiating clonal muscle cultures derived from normal muscle and from the mother of a DMD patient by immunocytochemistry , using anti dystrophin antibody . ^^^ While clonal cultures derived from normal muscle expressed dystrophin in all myotubes , two populations of myogenic cells could be demonstrated in muscle from this possible DMD carrier ; in 13 clones the myotubes expressed dystrophin and in 7 clones dystrophin was undetectable . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In the present study , only those myogenic colonies expressing the glucose 6 phosphate dehydrogenase A isozyme were found to express dystrophin , indicating that this woman was indeed a heterozygote for DMD . ^^^ By documenting dystrophin deficiency in a specific population of myogenic cells from this woman , we verify our previous conclusion regarding the normal proliferative capacity of DMD myoblasts . ^^^ Somatic cell testing of dystrophin expression may offer an alternative to established genetic carrier tests for those women in whom deletions of the DMD are not detectable , whose pedigree structure does not permit linkage analysis , or in whom standard phenotypic analyses are ambiguous . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
It is also estimated that 2 . 5 4 % of male isolated patients diagnosed as DMD may have the AR form , which could be one possible explanation for the inconsistent results between clinical diagnosis and dystrophin assessment in one case recently reported . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We studied total SDS solubilized muscle proteins ( TMP ) of Duchenne muscular dystrophy ( DMD ) and other neuromuscular disorders , with special attention to the change of dystrophin suspected of being the product of DMD locus . ^^^ Immunoblot analysis , using anti dystrophin antibodies ( anti 30 kd and anti 60 kd polyclonals ) , showed an absence of dystrophin in all 6 DMD cases . ^^^ To elucidate the degenerative mechanism of DMD muscle , further studies , including the problem of clarifying the physiological role of dystrophin , are necessary . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In mdx mice , the absence or marked deficiency of dystrophin was also noted ; however , the decrease of orthogonal arrays was not as severe as in DMD , which might relate to the milder clinical features in mdx mice as compared with those in DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is a protein present in normal human muscle but absent in patients with Duchenne muscular dystrophy ( DMD ) . ^^^ Dystrophin was present and was correctly localized in the cultures of normal muscle but was absent from cultures of muscle from patients with DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We present the results of our recent molecular genetic studies of five DMD families ( six affected males and 16 non affected family members ) by using the dystrophin cDNA . ^^^ Dystrophin was positive in the surface membrane of muscles from a non affected brother , mother and sister , but it was absent in the muscle from a DMD proband . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
These data indicate that ( 1 ) myoglobin localization in the muscle cells varies depending on the sorts of diseases and the grades of muscle cell degeneration , ( 2 ) myoglobin in dystrophic muscles fluxes from the muscle cells to extracellular spaces through the dilated sarcoplasmic reticula , T tubes and intermyofibrillar spaces , and ( 3 ) in DMD muscle , myoglobin also fluxes directly through the deteriorated plasma membrane in opaque fibers or through the plasma membrane altered due to dystrophin deficiency . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although dystrophin was completely absent in biopsied muscle specimens from 3 male DMD patients , it was faintly observed in the surface membrane of almost all muscle fibers examined in a female DMD patient . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is the altered gene product in Duchenne muscular dystrophy ( DMD ) . ^^^ In normal individuals and in patients with myopathies other than DMD , dystrophin was localized to the sarcolemma of the fibers . ^^^ The sarcolemmal localization of dystrophin is consistent with other evidence that there are structural and functional abnormalities of muscle surface membranes in DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Using immunocytochemical methods , the localization of dystrophin , the gene product affected in Duchenne muscular dystrophy ( DMD ) in aneural , differentiating human muscle cultures , was studied . ^^^ Dystrophin was not demonstrable in undifferentiated myoblasts from control patients and from two patients with DMD . ^^^ These data provide further evidence that dystrophin is a sarcolemma associated protein , that it is developmentally regulated , and that it is absent or greatly reduced in quantity in skeletal muscle cultures from patients with DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The propositions that nebulin or dystrophin is the product of the DMD locus , and that the mdx locus in the mouse is homologous to that of DMD , are critically evaluated . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is the gene product that is affected in Duchenne muscular dystrophy ( DMD ) . ^^^ The results showed that DMD carriers have normal and dystrophin deficient fibers . ^^^ Dystrophin immunohistochemistry may be helpful for the detection of DMD carriers . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The ultimate failure of regeneration in DMD , in contrast , may be due to an additional factors acting in DMD exacerbating the lack of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In agreement with previous reports , no full size dystrophin was detectable , only Dp 116 , one of the short dystrophin products of the Duchenne muscular dystrophy ( DMD ) gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Experiments in mice have supported the idea of treating Duchenne muscular dystrophy ( DMD ) by implanting normal muscle precursor cells into dystrophin deficient muscles . ^^^ Gene therapy for DMD , by introducing dystrophin constructs via retroviral or adenoviral vectors , has been shown to be possible in the mouse , but the efficiency and safety aspects of this technique will have to be carefully examined before similar experiments can be attempted in man . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In Duchenne muscular dystrophy ( DMD ) , the absence of dystrophin leads to a drastic reduction in all of the dystrophin associated proteins in the sarcolemma , thus causing the disruption of the dystrophin glycoprotein complex and the loss of the linkage to the extracellular matrix . ^^^ In DMD , a very small percentage of muscle fibers show dystrophin staining along the sarcolemma , presumably due to a second in frame deletion in the dystrophin gene . ^^^ However , the functional significance of these rare dystrophin positive muscle fibers ( revertants ) in DMD has been unclear . ^^^ Here we report the co expression of the dystrophin associated proteins with dystrophin in revertants of DMD skeletal muscle . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the DMD protein , is found at the plasmamembrane of striated muscle fibers . ^^^ Although dystrophin is missing in most or all muscle fibers of DMD patients , cardiac muscle is not as severely affected as skeletal muscle . ^^^ Dystrophin was absent from the heart of a 12 week old DMD fetus . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND : Mdx mutant mice , like patients with Duchenne Muscular Dystrophy ( DMD ) , lack dystrophin , a subsarcolemmal protein , that results in myofiber necrosis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To perform preimplantation DNA diagnosis for Duchenne muscular dystrophy ( DMD ) in a female carrier of a dystrophin gene deletion of exons 3 18 , we developed a polymerase chain reaction ( PCR ) based assay of exon 17 sequences . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is characterized by clinical weakness and progressive necrosis of striated muscle as a consequence of dystrophin deficiency . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The lack of phospholipase A 2 activation in fetuses with DMD , indicates that activation is not a direct consequence of dystrophin deficiency . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
These results thus show that FK 506 makes it possible to restore dystrophin expression to a level comparable to that observed in DMD carriers that are usually asymptomatic . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We show that nNOS partitions with skeletal muscle membranes owing to association of nNOS with dystrophin , the protein mutated in Duchenne muscular dystrophy ( DMD ) . ^^^ The dystrophin complex interacts with an N terminal domain of nNOS that contains a GLGF motif . mdx mice and humans with DMD evince a selective loss of nNOS protein and catalytic activity from muscle membranes , demonstrating a novel role for dystrophin in localizing a signaling enzyme to the myocyte sarcolemma . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The protein dystrophin is absent in muscles of patients with Duchenne muscular dystrophy ( DMD ) as well as in mdx mice . ^^^ The mdx mouse diaphragm closely resembles the human DMD phenotype and should serve as an appropriate model for future studies of dystrophin gene replacement . ^^^ These findings have important implications for the application of AV mediated dystrophin gene transfer to the treatment of DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Lack of mRNA and dystrophin expression in DMD patients three months after myoblast transfer . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Gene therapy for DMD may necessitate the use of truncated dystrophin mini genes to accommodate the limited cloning capacity of current generation viral delivery vectors . ^^^ These results suggest that viral mediated expression of moderate levels of a truncated dystrophin could be an effective treatment for DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is a protein product of the gene responsible for Duchenne muscular dystrophy ( DMD ) , and is a long slender protein localized at the protoplasmic surface of sarcolemma . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In more than 60 % of DMD patients , deletions of part or all of the dystrophin gene have been shown . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Twelve percent of dystrophin revertant fibers as observed by immunohistochemistry could be sufficient to ameliorate typical DMD clinical severity , or the patient may present a somatic mosaic . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The Duchenne muscular dystrophy ( DMD ) locus encodes three 14 kb dystrophin transcripts in addition to several smaller isoforms , one of which , Dp 116 , is specific to peripheral nerve . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is a protein product of the Xp 21 gene which is defective in patients with Duchenne muscular dystrophy ( DMD ) . ^^^ In immunohistochemical staining of dystrophin , the majority of DMD muscle fibers show negative staining . ^^^ Nevertheless , biopsy specimens from DMD patients labeled with many different antibodies may show a small number of fibers which are clearly dystrophin positive . ^^^ This very small percentage of dystrophin positive fibers ( DPF ) probably represents somatic reversion , suppression of the DMD gene mutation or alternating splicing of dystrophin mRNA . ^^^ To determine the significance of isolated DPF in muscle specimens of DMD patients , we examined 30 DMD muscle specimens , aged 4 years to 16 years , by the use of monoclonal antibody against the C terminal region of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In 132 DMD muscle biopsies we investigated the presence of dystrophin positive fibers and the relationship of dystrophin immunohistochemical pattern to the clinical severity of the disease . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The different theories ( vascular , neurogenic , membraneous , calcic and auto immune ) formulated to account for this disease have not been swept away by the discovery of the DMD gene and the deficient protein , dystrophin , since the exact cellular role played by the latter is still unknown . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
More than 60 % of cases of Duchenne muscular dystrophy ( DMD ) result from gross frame shifting deletions in the dystrophin gene that are detectable by a multiplex PCR system . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is characterized by a defect in dystrophin , a high molecular weight protein that is located predominantly in muscle , but which has been detected in brain . ^^^ Brain dystrophin has been localized to the synapse , in the postsynaptic density ( PSD ) , and is absent in the mdx mouse , an animal model of human DMD . ^^^ To define the potential pathogenic role of dystrophin deficiency in cognitive impairment , we examined the protein in human DMD brain . ^^^ The 427 kd dystrophin was absent in the PSD from DMD brain , but was normally expressed in the brain from an age matched control subject . ^^^ Our findings indicate that dystrophin is deficient in human DMD cortical synapses and provide a potential pathogenic mechanism for cognitive impairment . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In contrast , dystrophin was absent and DAPs reduced in the sarcolemma of Duchenne muscular dystrophy ( DMD ) muscles . ^^^ The overall histochemical features in DisMD were similar to those seen in DMD , though dystrophin and DAPs were normally expressed even in severely affected gastrocnemius muscle . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Lacking dystrophin , the muscle cells of persons with Duchenne muscular dystrophy ( DMD ) are abnormally vulnerable . ^^^ Like humans with DMD mdx mice lack dystrophin due to an 10 linked mutation and provide a good model for the human disease . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the product of the DMD gene , is present in all muscle types in normal individuals . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Immunocytochemical studies on serial sections of muscles from 19 patients with Duchenne muscular dystrophy ( DMD ) were done using seven kinds of antidystrophin antibodies that span dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A combination of an increase in myotube numbers and lack of competition with dystrophin for membrane binding sites in DMD myotubes may explain the distinct effects of dexamethasone on utrophin levels in normal and DMD cultures . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A lack of the cytoskeletal protein dystrophin causes muscle fiber necrosis in Duchenne / Becker muscular dystrophies ( DMD / BMD ) and in murine 10 linked muscular dystrophy ( MDX ) . ^^^ Dystrophin less DMD and MDX myotubes were more susceptible to hypoosmotic shock than controls , as monitored by the uptake of external horseradish peroxidase and release of the soluble enzymes creatinine kinase or pyruvate kinase and of radiolabelled proteins . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A certain membrane instability is probably responsible for muscle fiber necrosis , because defects in membrane proteins have been proposed to associate with progressive muscular dystrophies including dystrophin in DMD , a 50 KD subunit of dystrophin associated glycoprotein ( DAG ) in severe childhood autosomal recessive muscular dystrophy ( SCARMD ) , and subunit M of laminin ( merosin ) in congenital muscular dystrophy and dy mouse . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is localized to the sarcolemmal membrane of all normal muscle types , but is absent from muscles of DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We investigated whether dystrophin deficiency in muscle from Duchenne muscular dystrophy ( DMD ) patients induces HSPs . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We chose the mouse mutant mdx ( 10 linked muscular dystrophy ) which represents a null mutant condition for the gene product of the Duchenne muscular dystrophy ( DMD ) gene , dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) patients with mutations that disrupt the translational reading frame produce little or no dystrophin . ^^^ Two exceptions are the deletion of exons 3 7 and the occurrence of rare dystrophin positive fibers ( revertant fibers ) in muscle of DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Cognitive function and dystrophin gene mutations were investigated in 50 DMD patients ( mean age 11 . 1 yr ; range 3 . 5 20 . 3 ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin analysis together with a genetic DMD locus study led us to diagnose Becker type muscular dystrophy , with truncated dystrophin and a gene deletion extending from exon 45 to 48 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Immunofluorescence and immunogold labelling were used to localise the 43 kDa dystrophin associated glycoprotein ( 43DAG ) of the dystrophin glycoprotein complex in control and Duchenne muscular dystrophy ( DMD ) biopsies . ^^^ Measurement of nearest neighbour distances after immunogold labelling showed that in DMD the 43DAG was more dispersed , which is further evidence that dystrophin is normally involved in anchoring the DAGs in the plasma membrane . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We have characterized the mutation in a feline model of DMD that selectively eliminates expression of the muscle and Purkinje neuronal dystrophin isoforms . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Most Duchenne muscular dystrophy ( DMD ) patients have genetic deletions or point mutations in the dystrophin gene that alter the reading frame of dystrophin mRNA . ^^^ In many DMD patients , however , a small proportion of muscle fibers show strong dystrophin staining , and these `` revertant fibers ' ' are thought to arise by a mechanism that restores the reading frame . ^^^ Thus , 15 revertant fibers in a DMD patient with a frameshift deletion of exon 45 were shown to correct the frameshift by the additional deletion of exon 44 ( or perhaps exon 46 in some fibers ) from the dystrophin mRNA , but not by larger deletions . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The intellectual deficit seen in DMD may be a consequence of cerebral hypoxia , ue to malfunction of smooth muscle dystrophin . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Recombination events at DXS 992 ( located within the DMD locus , 3 ' to exon 50 of the dystrophin gene ) and at DXS 1068 ( 5 ' to the brain promoter of the dystrophin gene ) were observed . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
These factors , plus the limited proliferative and fusion capacity of Duchenne muscular dystrophy ( DMD ) myoblasts , make them less than an ideal vector for the dystrophin cDNA for dystrophin gene replacement therapy in DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
This observation suggests that lack of sarcolemma associated dystrophin in Duchenne muscular dystrophy ( DMD ) muscle may result from enhanced degradation of truncated mutation products rather than their inability per se to associate with the sarcolemma . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and the myopathy seen in the mdx mouse both result from absence of the protein dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although dystrophin deficiency is known to be the genetic and biochemical defect causing Duchenne muscular dystrophy ( DMD ) , much remains unknown about the underlying factors affecting clinical and pathological expression of the disease . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin deficiency is known to be the cause of 10 linked Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Data were compared to that obtained from DMD biopsies characterized by the absence of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a devastating neuromuscular disorder caused by mutations in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
No immunohistochemical abnormality was detected in the mother , but in the daughter a clear mosaic pattern of dystrophin positive and negative fibres was found , indicating carrier status for DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Grandson of case 1 ( son of case 1 ' s eldest daughter who has no clinical symptoms ) was diagnosed as DMD with deletion of exon 19 21 in dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The protein was also detected in the SDS extract of the Duchenne muscular dystrophy ( DMD ) muscle devoid of dystrophin . ^^^ Therefore , we conclude that the dystrophin associated protein , A3a , is retained in DMD muscles . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We examined whether the dystrophin associated glycoprotein complex ( GPC ) , which serves to fix dystrophin to cell membranes , is present at the sarcolemma in Duchenne muscular dystrophy ( DMD ) muscles using an immunohistochemical method . ^^^ We found that , although the amount of GPC was reduced in DMD muscles where utrophin but not dystrophin was distinctly present , 43DAG ( A3a ) was fairly heavily and 50DAG ( A 2 ) was lightly but distinctly stained on the cell surfaces . ^^^ Therefore , it is likely that 43DAG ( A3a ) is essential for the fixation of utrophin to cell membranes , as in the case of dystrophin . 50DAG ( A 2 ) may play other important roles in the pathogenesis of DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The utrophin ( UTRN ) locus is the autosomal homologue of the DMD ( Duchenne muscular dystrophy ) gene and encodes a protein , utrophin which is thought to be upregulated in the absence of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The effects of myoblast transplantations without an immunosuppressive treatment on muscle strength , and the formation of dystrophin positive fibers was studied in five young boys with Duchenne muscular dystrophy ( DMD ) using a triple blind design . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and murine 10 linked muscular dystrophy ( mdx ) are genetically homologous and both characterized by absence of dystrophin . ^^^ Recently we found that anionic phospholipid ( AP ) calcium binding sites are lacking at the muscle cell surface in DMD and we correlated these data with dystrophin deficiency and muscle necrosis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A large oligomeric complex of sarcolemmal glycoproteins is associated with dystrophin , the protein absent in Duchenne muscular dystrophy ( DMD ) . ^^^ It was recently shown that one component of this complex , the 50 kDa dystrophin associated glycoprotein ( 50 DAG or adhalin ) , is deficient in severe childhood autosomal recessive muscular dystrophy with DMD like phenotype ( SCARMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Using a multiplex amplification and heteroduplex analysis of dystrophin exons , we identified nonsense mutations in two DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The family of a male with Duchenne muscular dystrophy ( DMD ) and a deletion within the dystrophin gene has been studied . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
By contrast , dystrophin was not detected at all in the CNS of Duchenne muscular dystrophy ( DMD ) patients with intellectual disturbance . ^^^ This study suggests that in DMD the brain type dystrophin originally present in neurons is absent and may be related to the intellectual disturbance . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Over the last few years it has become clear that a proportion of biopsies from patients with Duchenne muscular dystrophy ( DMD ) contain fibres which show dystrophin positive immunolabelling . ^^^ Thus , even the low levels of dystrophin in DMD patients may have a functional significance . ^^^ We now suggest that exon skipping , whereby an existing frame shifting deletion is modified and extended to an in frame mutation , may be responsible for the limited rescue of dystrophin synthesis in the muscle from many DMD patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In heart biopsies of both patients , dystrophin the protein product of DMD locus was absent in many fibers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To address potential involvement of muscle basal lamina and membrane cytoskeleton proteins in the etiology of non dystrophinopathy muscular dystrophies , we examined the immunostaining intensity and distribution of laminin subunits ( A , B 1 , B 2 and M ) , type 4 collagen , dystrophin and spectrin in skeletal muscle biopsies from 64 myopathic patients ( 17 Fukuyama congenital muscular dystrophy : FCMD , 13 congenital muscular dystrophy unrelated to FCMD : other CMD , 16 Duchenne muscular dystrophy : DMD , and 18 other neuromuscular diseases . ^^^ Laminin A was only detected in rare regenerating fibers in control biopsies , whereas it was seen around most muscle fibers in FCMD patients , and in dystrophin deficient muscle fibers from DMD patients and its carrier . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchene muscular dystrophy ( DMD ) is a fatal progressive 10 linked muscle disorder , caused by mutations in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The authors ' earlier findings of a negative electroretinogram ( ERG ) in a boy with Duchenne muscular dystrophy ( DMD ) led them to investigate dystrophin gene deletions and ERGs in five boys with DMD . ^^^ The authors believe the unique ERG recorded for the human subjects is a manifestation of DMD associated with defects at the dystrophin gene locus and represents a new clinical entity . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To compare the frequency and distribution of rearrangements in the dystrophin gene in Duchenne muscular dystrophy ( DMD ) between Japanese DMD patients and those in North America and Europe , Southern blot analyses of the dystrophin gene were carried out in 88 probands classified as DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein product of the Duchenne muscular dystrophy ( DMD ) gene , is associated with a large oligomeric complex of sarcolemmal glycoproteins , including dystroglycan which provides a linkage to the extracellular matrix component , laminin . ^^^ In patients with DMD , the absence of dystrophin leads to the loss in all of the dystrophin associated proteins , causing the disruption of the linkage between the subsarcolemmal cytoskeleton and the extracellular matrix . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) , the most severe form of inherited muscular dystrophies , is known to be caused by a deficiency of the protein `` dystrophin ' ' , but the pathophysiologic consequences of this lack have not as yet been elucidated . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Utrophin and dystrophin are highly homologous proteins which are reciprocally expressed in DMD ( Duchenne muscular dystrophy ) muscle . ^^^ The remarkable similarity of these proteins suggests that they may play a similar cellular role in some circumstances ; if this were the case then utrophin may be capable of replacing dystrophin in DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
It is located more than 2000 kb 3 ' to the muscle and brain type dystrophin promoters and only 150 kb from the 3 ' end of the gene , suggesting that in most DMD patients the expression of Dp 71 is unaffected . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The absence of dystrophin causes the drastic reduction of the dystrophin associated proteins ( DAPs ) in the sarcolemma and the loss of the linkage between the subsarcolemmal cytoskeleton and the extracellular matrix in Duchenne muscular dystrophy ( DMD ) skeletal muscle . ^^^ In both cases , however , the reduction in the DAPs was milder than in typical DMD patients or DMD patients lacking the COOH terminal domains of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
An unusual pedigree typical of 10 linked transmission with affected subjects showing clinical features of DMD but with normally expressed dystrophin is presented . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Weak dystrophin labelling was found in sections from 21 / 30 DMD cases and on blots in 18 / 30 cases . ^^^ The mean age at loss of mobility among the DMD patients with no dystrophin labelling on tissue sections was 7 . 9 years ( range 6 . 3 9 . 5 ) while the mean age among those with some labelling was 9 . 9 years ( range 8 . 0 11 . 9 ) ; this is a significant difference . ^^^ It is concluded that even the very low concentrations of dystrophin found in DMD patients may have some functional significance . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We describe here the use , in a Malaysian boy with DMD , of a recent innovation , multiplex polymerase chain reaction ( PCR ) , to obtain molecular diagnosis by detection of dystrophin gene deletions . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein product of the Duchenne muscular dystrophy ( DMD ) gene , is a cytoskeletal protein tightly associated with a large oligomeric complex of sarcolemmal glycoproteins including dystroglycan , which provides a linkage to the extracellular matrix component , laminin . ^^^ In DMD , the absence of dystrophin leads to a drastic reduction in all of the dystrophin associated proteins , causing the disruption of the linkage between the subsarcolemmal cytoskeleton and the extracellular matrix which , in turn , may render muscle cells susceptible to necrosis . ^^^ However , truncated dystrophin lacking these domains was reported to be localized to the sarcolemma in four DMD patients recently . ^^^ Here we report that all of the dystrophin associated proteins are drastically reduced in the sarcolemma of three DMD patients in whom dystrophin lacking the COOH terminal domains was properly localized to the sarcolemma . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is a large cytoskeletal protein encoded by the Duchenne muscular dystrophy ( DMD ) gene . ^^^ In DMD , the absence of dystrophin leads to a drastic reduction in all of the dystrophin associated proteins . ^^^ In severe childhood autosomal recessive muscular dystrophy with DMD like phenotype ( SCARMD ) , a specific deficiency of the 50 kDa dystrophin associated glycoprotein is found . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
These results support the hypothesis that PDN could enhance the myogenesis of satellite cells and increase dystrophin related protein expression in DMD treated patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Immunohistochemical analysis of muscle dystrophin and haplotype analysis of the DMD locus revealed that the 10 chromosome carrying the DMD gene was transmitted from the healthy maternal grandfather to his three daughters , including the proband ' s mother . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The genes responsible for DMD and myotonic dystrophy are dystrophin and myotonin protein kinase genes located on chromosomes 10 and 19 respectively . ^^^ The disease in DMD is due to deletion mutations in the dystrophin gene , while myotonic dystrophy is due to expansion of the GCT trinucleotide repeats in the myotonin protein kinase gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Details of disease progression and dystrophin expression are presented for three patients with Duchenne muscular dystrophy ( DMD ) who unexpectedly had intragenic deletions which maintained the open reading frame for mRNA translation . ^^^ Two with relatively small deletions ( missing exons 10 13 and 52 55 ) had low levels of dystrophin which were comparable to those found in many DMD patients . ^^^ This is the first time that a patient has been described with the clinical phenotype of DMD , a large amount of dystrophin which was correctly localized at the periphery of muscle fibres and an in frame deletion of exons in the amino terminal domain . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DNA samples from 21 unrelated Japanese patients with Duchenne muscular dystrophy ( DMD ) with nondeletion type abnormality in the dystrophin gene and three samples from possible deletion carriers were analyzed using pulsed field gel electrophoresis ( PFGE ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is the product of the Duchenne muscular dystrophy ( DMD ) gene . ^^^ Dystrophin related protein ( utrophin ) , an autosomal homologue of dystrophin , was studied in skeletal muscle from normal fetuses aged 9 26 weeks and one stillbirth of 41 weeks ' gestation , and compared with low and high risk DMD fetuses aged 9 20 weeks . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin was detected in sections and blots from 58 % of the DMD patients with a size that was compatible with synthesis from mRNA in which the reading frame had been restored . ^^^ Certain deletions were particularly associated with the occurrence of limited dystrophin synthesis in DMD patients . ^^^ For example , 9 / 11 DMD patients missing single exons had some detectable dystrophin labelling compared with 10 / 24 who had deletions affecting more than one exon . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin related protein was present in about the same amounts and distribution in normal and DMD cultured myoblasts and myotubes . ^^^ In DMD / BMD the diffuse sarcolemmal DRP may partially compensate for dystrophin deficiency . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
These twins carry a deletion , approximately 300 kb in length , in one of their 10 chromosomes within the dystrophin gene , which is responsible for Duchenne muscular dystrophy ( DMD ) in one twin [ Richards et al . : Am J Hum Genet 46 : 672 681 , 1990 ] . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) patients and mdx mice are characterized by the absence of dystrophin , a membrane cytoskeletal protein . ^^^ The finding that all of the dystrophin associated proteins ( DAPs ) are drastically reduced in DMD and mdx skeletal muscle supports the primary function of dystrophin as an anchor of the sarcolemmal glycoprotein complex to the subsarcolemmal cytoskeleton . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We report here the second evidence of retrotransposition of L 1 , which was found inserted into the dystrophin gene of a patient , causing Duchenne muscular dystrophy ( DMD ) . ^^^ When the PCR was used to amplify a region of the dystrophin gene encompassing exon 44 from genomic DNA of two Japanese brothers with DMD , it was found to be approximately 600 bp larger than expected . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We now describe what we believe to be the first dystrophin missense mutation in a DMD patient . ^^^ The patient makes a dystrophin protein which is properly localized and is present at a higher level than is observed in DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
It is concluded that : ( 1 ) in aneurally cultured human muscle , an increase in the basal level of internal calcium can occur at early stages of myogenesis before the expression of the dystrophin gene ; and ( 2 ) the changes in calcium transients induced by depolarization or direct stimulation of sarcoplasmic reticulum are not susceptible of inducing a calcium overload in DMD cells . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The absence of dystrophin , the metabolic defect that causes DMD , leads to a peculiar cardiomyopathy which initially affects the posterior wall of the left ventricle . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Apo dystrophin 3 : a 2 . 2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DMD cells are characterized by a lack of dystrophin whereas FSH cells express normal dystrophin . ^^^ The aim of this study was to determine whether , in dystrophin deficient muscle cells ( DMD ) , contraction destabilized internal calcium homeostasis . ^^^ This study strongly suggest that : ( 1 ) contraction is a dominant factor contributing to Ca2+ abnormalities in DMD cells ; and ( 2 ) contracting dystrophin deficient cells have defective calcium handling mechanisms during electrical events which involve sarcolemma . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A single blind study of dystrophin staining in skeletal muscle was performed in 13 biopsies from carriers of Duchenne Muscular Dystrophy ( DMD ) and controls . ^^^ The results indicate that immunohistochemical analysis of dystrophin staining is a valuable diagnostic test for DMD carriers when DNA for testing is unavailable from critical family members or is uninformative , when creatine kinase ( CK ) values are conflicting or when CK values must be used in isolation . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein product of the Duchenne muscular dystrophy ( DMD ) gene , is a major component of the subsarcolemmal cytoskeleton and exists in a large oligomeric complex tightly associated with several sarcolemmal glycoproteins which provide a linkage to the extracellular matrix protein , laminin . ^^^ In the present study , we investigated the status of the dystrophin associated proteins in the skeletal muscle from 17 DMD patients of various ages . ^^^ The results revealed a dramatic reduction in all of the dystrophin associated proteins in the sarcolemma of DMD muscle compared with normal muscle and muscle from a variety of other neuromuscular diseases . ^^^ Our results indicate that the absence of dystrophin leads to the loss in all of the dystrophin associated proteins , which renders DMD muscle fibers susceptible to necrosis . ^^^ The analysis of dystrophin associated proteins is important in the assessment of experimental therapies that attempt to replace dystrophin in DMD muscle . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Alternative splicing of dystrophin mRNA complicates carrier determination : report of a DMD family . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Identification of the defective gene and the absent gene product dystrophin can substantiate the clinical evidence for manifesting 10 linked Duchenne type muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DNA methods to diagnose Duchenne muscular dystrophy ( DMD ) are not always informative , and we have published previously the first instance of in utero muscle biopsy to assess dystrophin in a male fetus having the same `` 10 ' ' as an affected sib . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
One significant problem posed by adenoviral vector mediated gene transfer for DMD is that currently available adenoviral vectors can not accommodate the entire 14 kb dystrophin cDNA . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A G+1 > A transversion at the 5 ' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp 116 and severe clinical involvement in a DMD patient . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is the 427 kDa protein product of the Duchenne muscular dystrophy gene ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Retention deficits at long delays in spontaneous alternation and bar pressing tasks . 10 linked Duchenne muscular dystrophy ( DMD ) is frequently associated with a nonprogressive , cognitive defect attributed to the absence of dystrophin in the brain of DMD patients . ^^^ The mutant mdx mouse , lacking in 427 kDa dystrophin in both muscle and brain tissues , is considered to be a valuable model of human DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dp 71 , a C terminal isoform of dystrophin , has been identified as the major DMD gene product in many nonmuscle tissues . ^^^ Total protein lysates from normal skeletal muscle , DMD muscle , amniocytes and brain were shown to contain beta dystroglycan , a component of the dystrophin associated glycoprotein complex ( DGC ) . ( ABSTRACT TRUNCATED AT 250 WORDS ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A new point mutation in exon 12 of the dystrophin gene was identified in a DMD patient using multiple SSCP analysis , which allows the simultaneous study of several exons . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The mdx mouse has a mutated dystrophin gene and is used as a model for the study of Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The absence of functional dystrophin in Duchenne muscular dystrophy ( DMD ) and in one of its animal models , the mdx mouse , leads to a reduction of alpha and beta DG in muscle , and is often associated with mental retardation and abnormal retinal synaptic transmission in DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The mechanism of the inactivation of the dystrophin gene in one third of patients with DMD / BMD is unknown . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
For the dystrophin gene , it has been shown that about 65 % of DMD / BMD patients have detectable deletions . ^^^ We studied 14 10 linked muscular dystrophy ( DMD ) Thai child patients for detection of gene deletions by amplification of nine exons plus the promoter of the dystrophin gene in two multiplex polymerase chain reactions that included hot spot region ( exons 45 53 and 5 ' terminus ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
It shows extensive sequence similarity to dystrophin leading to postulation that utrophin may be able to compensate for the absence of dystrophin in Duchenne muscular dystrophy ( DMD ) patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Normal dystrophin expression is lacking in skeletal muscle and the CNS of both DMD children and the mdx mouse model . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DMD , at present , has been considered a result of duplication ( 60 % ) , deletion ( 5 to 6 % ) or point mutations at gen Xp 21 ( Zatz , 1994 ) , that codifies a protein called Dystrophin ( Hoffman et al . , 1987 ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Number and order of HindIII exon containing fragments ( Hd ) at 3 ' region of DMD gene were studied systematically using 16 partly overlapping cDNA subprobes which were produced from dystrophin cDNA 9 14 with each of 9 restriction endonucleases . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
With the isolation and sequencing of the DMD gene at Xp 21 and the identification of the DMD gene product dystrophin , DNA technology can be applied for the diagnosis of the affected , for the detection of carriers and in antenatal diagnosis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In skeletal muscles of patients with Duchenne muscular dystrophy ( DMD ) , the absence of dystrophin was thought to lead to the large reduction in all of the dystrophin associated proteins ( DAPs ) . ^^^ To clarify the distribution and characterization of dystrophin and beta dystroglycan in the brain of humans , we carried out immunostaining and immunoblotting studies on tissues from three DMD patients with intellectual disturbances ( ages 17 , 22 , and 26 years ) and in five controls ( age range , 42 74 years ) . ^^^ An antidystrophin antibody revealed dystrophin to be localized in neuronal cells and in the vascular wall in control brains , but it was absent from these tissues in DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is an 10 linked progressive muscle disorder which is caused by a defect of dystrophin , a 427 kDa muscle cell membrane protein . ^^^ One of the possible means of DMD therapy is to express the dystrophin gene in patients ' muscles . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Gene therapy for DMD could benefit from the development of adenoviral vectors with an increased cloning capacity to accommodate a full length ( approximately 14 kb ) dystrophin cDNA . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A model for DMD is provided by the mdx mouse which fails to produce full length dystrophin in muscle and brain . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Ninety five percent of cases of severe muscular dystrophy with early childhood onset result from mutations in the dystrophin region of the human 10 chromosome ( DMD , McKusick 310200 ) , whereas 5 % are thought to result from mutations in autosomal genes . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
About 30 % of cases of Duchenne muscular dystrophy ( DMD ) result from point mutations randomly distributed in the immense dystrophin gene . ^^^ Moreover , several alternatively spliced forms of ectopic dystrophin mRNA were characterized in normal controls or in DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Around 35 % of Duchenne and Becker muscular dystrophy ( DMD / BMD ) patients can not be identified by techniques which identify major DMD rearrangements in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is the protein product which is absent in Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In the absence of dystrophin , in Duchenne muscular dystrophy ( DMD ) and the mdx mouse , levels of adhalin , alpha dystroglycan and other components of the complex , are severely reduced , and it has been speculated that this might be an important factor in precipitating myofibre necrosis . ^^^ In DMD the labelling of adhalin and alpha dystroglycan is severely reduced quantitatively ( although the vestige that remains is positioned normally ) but merosin is expressed normally , showing that its incorporation is independent of that of dystrophin and its associated proteins . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The rod shaped protein , dystrophin , which is absent from or defective in the muscle of DMD patients , binds to a number of membrane associated proteins ( known collectively as dystrophin associated proteins [ DAPs ] ) . ^^^ The levels of DAPs is greatly reduced in the muscle of DMD patients and mdx mice , which lack dystrophin . ^^^ In addition to dystrophin isoforms , the DMD gene codes also for several smaller proteins . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Normal dystrophin expression is lacking in skeletal muscle and the central nervous system ( CNS ) of both DMD children and the mdx mouse model . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Experiments in dystrophin gene transgenic mice have supported the concept of treating Duchenne muscular dystrophy ( DMD ) by demonstrating that regional expression of recombinant dystrophin in dystrophic muscle leads to regional restoration of normal muscle morphology and that dystrophin mini genes driven by muscle specific regulatory elements are probably more effective than the full length dystrophin gene . ^^^ As a gene therapy trial for DMD , dystrophin cDNAs were introduced into skeletal muscle fibers of dystrophin deficient mice ( mdx ) through direct DNA injection into plasmid expression vectors , and by replication defective recombinant retrovirus or adenovirus vectors . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Application of this vector system to the treatment of DMD is limited by the vector immunogenicity , as well as by size constraints for insertion of recombinant genes , precluding the incorporation of a full length dystrophin minigene construct . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The dystrophin gene defective in Duchenne muscular dystrophy ( DMD ) is extreme in size and complexity with several promoters which direct expression of different isoforms in different tissues . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Utrophin is an autosomally encoded homologue of dystrophin , the protein product of the Duchenne muscular dystrophy ( DMD ) gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A skewed pattern of 10 inactivation is also responsible for the clinical manifestation of DMD in females carrying 10 ; autosome translocations , which disrupt the dystrophin gene . ^^^ We report here the case of a karyotypically normal female affected with DMD as a result of homozygosity for a deletion of exon 50 of the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystroglycan was originally identified as the extracellular and transmembrane constituents of a large oligomeric complex of sarcolemmal proteins associated with dystrophin , the protein product of the Duchenne muscular dystrophy ( DMD ) gene . ^^^ The fact that the drastic reduction of dystroglycan in the sarcolemma , caused by the absence of dystrophin , leads to muscle cell death in DMD patients and mdx mice indicates that , as a laminin receptor , dystroglycan contributes to sarcolemmal stabilization during contraction and stretch of striated muscle cells . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The recent discovery that nitric oxide synthase ( required for muscle relaxation ) is associated with the sarcolemmal protein dystrophin normally and that both proteins are absent in DMD has heightened interest in the potential role of ROS in this disorder . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Twenty two Duchenne muscular dystrophy ( DMD ) patients from the province of Moravia , Czech Republic , were tested for the presence of dystrophin gene rearrangements using multiplex polymerase chain reaction ( PCR ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The deletion spectrum of the dystrophin gene was studied in 25 patients with Duchenne ' s muscular dystrophy ( DMD ) from 23 families in Tajikistan . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
As dystrophin protein , the protein product of Duchenne muscular dystrophy ( DMD ) gene , represents only 0 . 002 approximately 0 . 03 % of the total muscle proteins and human dystrophin protein has not been purified , quantitative estimation of this protein has been difficult . ^^^ This system , using a capture antibody specific for carboxyl terminus and two different detection antibodies for the mid rod domain and the amino terminal domain , is highly specific for dystrophin , since muscle specimens from DMD patients gave almost zero response ( n = 3 , 0 . 38 approximately 0 . 45 % ; expressed as a percentage of normal muscle tissue ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Replacement of the missing protein , dystrophin , using myoblast transfer in humans or viral / liposomal delivery in the mouse DMD model is inefficient and short lived . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In Duchenne muscular dystrophy ( DMD ) muscle cells which lack dystrophin , contraction seems to be a dominant factor contributing to the abnormal elevated intracellular calcium level . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To date , adenoviral vector mediated gene transfer for DMD has been unavailable because ( 1 ) adenoviral vectors were unable to accommodate the full length dystrophin cDNA ( 14 kb ) ; and ( 2 ) adenoviral vectors induced inflammatory reactions in the gene transfer recipient . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
These findings indicate that abnormal cell membrane function may be correlated with the abnormal dystrophin or lack of dystrophin in the brain of patients with DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
It has been suggested that alpha dystroglycan links the dystrophin associated protein complex and extracellular matrix and that the absence of dystrophin and alpha dystroglycan in Duchenne muscular dystrophy ( DMD ) may lead to the breakdown of this linkage . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We screened a human 10 chromosome derived genomic library with a full length dystrophin cDNA and isolated 15 dystrophin specific cosmids that contain DMD gene exons . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is an 10 linked , lethal disease caused by mutations of the dystrophin gene . ^^^ No effective therapy is available , but dystrophin gene transfer to skeletal muscle has been proposed as a treatment for DMD . ^^^ Overall , these results demonstrate that retroviral mediated dystrophin gene transfer via transplantation of producer cells is a valid approach towards the long term goal of gene therapy of DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein altered in Duchenne muscular dystrophy ( DMD ) , is necessary for normal retinal function and exists in several isoforms . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We evaluated myoblast implantation in 10 boys with Duchenne muscular dystrophy ( DMD ) and absent dystrophin ( age 5 10 years ) who were implanted with 100 million myoblasts in the anterior tibial muscle of one leg and placebo in the other . ^^^ These studies suggest a salutary effect of cyclosporine upon muscular force generation in Duchenne muscular dystrophy ; however , myoblast implantation was not effective in replacing clinically significant amounts of dystrophin in DMD muscle . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Three novel point mutations in the dystrophin gene in DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We describe here a comprehensive survey of Drp 2 expression in the mouse by RT PCR , and compare the expression profile of Drp 2 with that of the related genes Dmd , Drp 1 and Dag 1 that encode all the known isoforms of dystrophin , DRP1 / utrophin and a component of the dystrophin associated protein complex , dystroglycan , respectively . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
These results suggest that gene therapy of DMD will require methods to transduce the majority of fibers in critical muscle groups with vectors that express moderate levels of dystrophin proteins . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The main goal of gene therapy for Duchenne muscular dystrophy ( DMD ) is to restore dystrophin into as many muscle cells as necessary to be therapeutic . ^^^ We have attempted to exploit these features to develop new HSV mutant vectors for dystrophin gene delivery to DMD muscle , however two impediments to using this virus for muscle gene delivery have to be overcome : namely viral cytotoxicity and the differential transducibility with HSV 1 throughout the development of muscle fibers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Hopes ran high that a cure for Duchenne muscular dystrophy ( DMD ) would quickly follow the discovery of dystrophin by Lou Kunkel and his group in the 1980 ' s . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Golden retriever muscular dystrophy ( GRMD ) is an excellent model for the study of the efficacy of gene therapy in dystrophin deficient myopathies for there are many similarities between affected dogs and Duchenne muscular dystrophy ( DMD ) in boys . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The mdx mouse , an animal model used to study Duchenne muscular dystrophy ( DMD ) , has a nonsense mutation in exon 23 of the dystrophin gene which should result in a truncated protein that can not be correctly localized at the sarcolemma of the muscle fibres . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To date , all dystrophin gene transfer studies have been performed on mdx hindlimb skeletal muscles which in comparison to the severe deficits seen in muscles from patients afflicted with Duchenne muscular dystrophy ( DMD ) , exhibit only modest morphological and functional changes . ^^^ Since the mdx diaphragm muscle presents the same pathophysiological alterations characteristic of DMD muscles , we therefore injected recombinant plasmid DNA encoding the dystrophin mini gene ( pRSVdy B ) into diaphragm muscles of 10 week old mdx4cv mice and examined the physiological consequences of dystrophin expression in a muscle that has undergone a phase of massive degeneration and regeneration . ^^^ Although these data provide encouraging results for future therapeutic strategies aimed at curing DMD , additional work will none the less be necessary to determine the full impact of dystrophin gene replacement . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Muscle cells from Duchenne muscular dystrophy ( DMD ) patients and the dystrophic mdx mouse lack the protein dystrophin . ^^^ These results show that introduction of extrachromosomal copies of the full dystrophin gene to originally dystrophic muscle cells can correct the defect in calcium homeostasis that is hypothesized to lead to the muscle cell necrosis seen in DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The absence of dystrophin at the muscle membrane leads to Duchenne muscular dystrophy ( DMD ) , a severe muscle wasting disease that is inevitably fatal in early adulthood . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although the precise function of utrophin at the postsynaptic membrane of the neuromuscular junction still remains unclear , despite recent genetic ' knockout ' experiments , a separate study in a transgenic mouse model system for Duchenne muscular dystrophy ( DMD ) has nonetheless shown that overexpression of utrophin into extrasynaptic regions of muscle fibers can functionally compensate for the lack of dystrophin and alleviate the muscle pathology . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a degenerative disorder of the skeletal muscle in human and is caused by mutations in the dystrophin gene . ^^^ Exon 52 of the dystrophin gene was disrupted , because the deletion of this exon is known to result in the DMD phenotype in human . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dp 71 , a 71 kDa C terminal isoform of dystrophin , is the major product of the DMD gene in brain . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Female carriers of Duchenne muscular dystrophy ( DMD ) may demonstrate elevated serum creatine kinase ( CK ) and reduction of muscle dystrophin in all muscle types . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The absence or functional deficiency of the dystrophin cytoskeleton is the cause of several types of muscular dystrophies including the lethal Duchenne muscular dystrophy ( DMD ) , one of the most severe and most common genetic disorders of man . ^^^ Absence of dystrophin from these sites is believed to be responsible for some extramuscular symptoms of DMD , e . g . mental retardation and disturbances in retinal electrophysiology ( reduced b wave in electroretinograms ) . ^^^ In view of the abnormal neurotransmission between photoreceptors and ON bipolar cells in DMD patients the dystrophin / beta dystroglycan containing projections of photoreceptor presynaptic terminals into the postsynaptic dendritic plexus might somehow modify the ON bipolar pathway . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The genetic defect responsible for Duchenne muscular dystrophy ( DMD ) can be identified as a partial deletion of the dystrophin gene in 50 % of cases , or as a partial duplication in a further 10 % . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Utrophin is a homologue of dystrophin , the protein whose absence is responsible for Duchenne muscular dystrophy ( DMD ) . ^^^ These two proteins are members of the dystrophin associated protein complex whose distribution is greatly reduced at the surface of the DMD muscle . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The 10 linked Duchenne muscular dystrophy ( DMD ) is the most frequent generalized muscle disorder arising from a lack of the sarcolemmic protein `` dystrophin ' ' . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
These include a structurally very similar gene in vertebrates encoding utrophin ( DRP 1 ) , which is closely related to dystrophin , and a number of small and simple genes in vertebrates or invertebrates encoding proteins similar to some of the small products of the DMD gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Similar to dystrophic muscle in DMD patients , dystrophin protein is not expressed along the surface membrane , even though the mdx mouse has no apparent signs of muscular dysfunction . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Forty two Arab children with Duchenne muscular dystrophy ( DMD ) were studied for intragenic deletions in 25 exons of the dystrophin gene using three different multiplex PCR sets each amplifying a total of 9 , 9 and 6 different exons , respectively . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is an 10 linked recessive muscle disease characterized by a lack of dystrophin expression . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The primary abnormality in DMD is an absence of dystrophin , a 427 kd protein normally found at the cytoplasmic face of the muscle cell surface membrane . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A dystrophin deficient golden retriever dog model ( GRMD ) has been identified , which , unlike the mouse model , leads to a clinicopathological phenotype similar to that of Duchenne muscular dystrophy ( DMD ) . ^^^ The GRMD model may help to solve the open questions pertaining to dystrophin gene transfer such as systemic delivery and improvement of muscle function before human trials for gene replacement therapy in DMD may be considered . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The protein dystrophin is absent in the muscles of patients with Duchenne muscular dystrophy ( DMD ) as well as dystrophin deficient mice with muscular dystrophy ( mdx mice ) . ^^^ The mdx mouse diaphragm closely resembles the human DMD phenotype and thus provides a useful model for studies of dystrophin gene replacement . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In contrast , mice lacking dystrophin ( Dmd ( mdx ) ) , appear physically normal despite their underlying muscle pathology . ^^^ Mice deficient for both dystrophin and the dystrophin related protein , utrophin , ( Dmd ( mdx ) ; Utrn / mice ) die between 6 and 20 weeks of age suffering from severe muscle weakness with joint contractures , pronounced growth retardation and kyphosis , suggesting that dystrophin and utrophin play complementary roles . ^^^ The phenotypic rescue observed demonstrates that the Dmd ( mdx ) ; Utrn / mice are an ideal model for testing gene delivery protocols for the expression of utrophin or dystrophin in skeletal muscle . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and murine 10 linked muscular dystrophy ( mdx ) are both due to absence of the subsarcolemmal protein dystrophin . ^^^ These findings have important implications for the eventual application of AdV mediated dystrophin gene transfer in DMD patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin gene was analysed in 32 unrelated DMD families ( 46 subjects : 32 index cases and 14 sibs ) for the presence of deletions by mPCR for 27 exons and cDNA probes for the entire gene . ^^^ Correlation between phenotype and genotype of these DMD patients demonstrates that genetic studies of lymphocyte DNA may not always reflect the situation in the tissue involved in dystrophin , i . e . muscle . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dmd ( mdx beta geo ) : a new allele for the mouse dystrophin gene . ^^^ During a gene trap screen , an insertion of the gene trap vector into the dystrophin gene , creating a new allele for the Dmd gene , has been discovered . ^^^ In contrast to spontaneous or ENU induced alleles , Dmd ( mdx beta geo ) can be used to follow dystrophin expression by staining for beta galactosidase activity . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Successful transplantation of genetically corrected DMD myoblasts following ex vivo transduction with the dystrophin minigene . ^^^ Adenoviral mediated dystrophin gene transfer into these DMD cultures and expression of the dystrophin transgene were achieved in vitro . ^^^ From our results , we conclude that , although not at a high proportion , ( 1 ) DMD primary myoblast cultures are infectable by adenoviruses ; ( 2 ) they can be efficiently transplanted back in a muscle , leading to normal fusion of infected myoblasts with the host fibers ; and ( 3 ) they can correct the dystrophin deficiency in the host fibers by the expression of a mini dystrophin transgene . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Golden retriever muscular dystrophy ( GRMD ) , the canine model of Duchenne muscular dystrophy ( DMD ) , is caused by a splice site mutation in the dystrophin gene . ^^^ This 390 kD dystrophin suggests that GRMD dogs , like some DMD patients , employ a mechanism to overcome their predicted frameshift . ^^^ An understanding of how truncated dystrophin is produced in GRMD may allow this mechanism to be manipulated toward a potential therapy for DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DNA analysis of some mutation of SMN , dystrophin , FMR 1 and PAH genes was performed among 149 high risk families of SMA , DMD , fragile 10 syndrome and PKU from different regions of Ukraine . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
One pathogenic model for DMD ( the `` structural hypothesis ' ' ) suggests that this complex forms a structural bridge between the external basal lamina and the internal cytoskeleton and that the absence of dystrophin produces a defect in membrane structural support that renders skeletal muscle susceptible to plasmalemmal ruptures ( or `` tears ' ' ) during the course of contractile activity . ^^^ This review attempts to critically evaluate the structural hypothesis for DMD and presents an opposing model ( the `` channel aggregation model ' ' ) that highlights the role of dystrophin in organizing the membrane cytoskeleton and the role of the cytoskeleton in aggregating ion channels and neurotransmitter receptors . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The absence of full length dystrophin molecules in skeletal muscle fibres results in the most severe form of muscular dystrophy , the Duchenne form ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is caused by dystrophin deficiency , which results in muscle necrosis and the upregulation of heat shock / stress proteins ( HSP ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The restriction of the DFN 4 locus to DMD suggests that dystrophin may play an important role in hearing . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Complete analysis of the dystrophin gene was performed to define the localization of deletions and duplications in relation to the different DMD promoters . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a lethal , progressive muscle wasting disease caused by a loss of sarcolemmal bound dystrophin , which results in the death of the muscle fiber leading to the gradual depletion of skeletal muscle . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin immunostaining can be ascribed to dystrophin and / or utrophin as well as the DMD ( Duchenne Muscular Dystrophy ) gene short products Dp 140 and Dp 71 as revealed by Western immunoblots of synaptosomes isolated from neurohypophyses of control rats . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The dystrophin gene , which is defective in Duchenne muscular dystrophy ( DMD ) , also encodes a number of smaller products controlled by internal promoters . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is caused by a defect in a 427 kDa membrane associated protein : dystrophin . ^^^ The purpose of this work was to determine the normal tissue expression of full length dystrophin ( Dp 427 ) and the dystrophin isoforms Dp 260 , Dp 140 , Dp 116 , and Dp 71 , to aid in understanding what roles these isoforms might play in DMD nonmuscle manifestations . ^^^ The expanded tissue distribution supports the hypothesis that dystrophin isoforms serve essential and unique functions , necessitating further investigation into their potential roles in DMD nonmuscle manifestations . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A concept is presented which suggests that , as a consequence of the disruption of the dystrophin glyoprotein complex in DMD , nNOS fails to become attached to the sarcolemma and is subject to downregulation in the cytosol . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the 10 chromosomes : prenatal and postnatal findings in a fetus with a deletion of exons 67 71 of the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In Duchenne muscular dystrophy ( DMD ) and its murine model , the dystrophic mouse ( MDX ) , the skeletal musculature lacks dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
For Duchenne muscular dystrophy ( DMD , dystrophin deficiency ) and Thomsen / Becker myotonia ( muscular chloride channel deficiency ) genetically homologous mouse models are available , the dystrophin deficient MDX mouse and the myotonic ADR mouse . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In DMD muscle , dystrophin has been found to be absent and dystroglycans and sarcoglycans decreased . ^^^ It further indicates the possibility that the absence of dystrophin in DMD muscle during muscle contraction may result in temporal damage to the lipid bilayer . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Two additional SG patients here reported give further support to these suggestions : an LGMD2F patient showed patchy labelling for gamma SG , despite the lack of staining of the other three SG proteins ; an LGMD2C boy showed deficiency in dystrophin by means of WB and IF , comparable with an DMD manifesting carrier . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
PURPOSE : Mutations in the dystrophin gene result in Duchenne muscular dystrophy ( DMD ) . ^^^ DMD is associated with an abnormal electroretinogram ( ERG ) if the mutation disrupts the translation of retinal dystrophin ( Dp 260 ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Utrophin is a close homolog of dystrophin , the protein whose mutations cause Duchenne muscular dystrophy ( DMD ) . ^^^ Utrophin is present at low levels in normal and dystrophic muscle , whereas dystrophin is largely absent in DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Recombinations were detected within the dystrophin gene ( DMD ) in one of the affected males and between DXS 207 and DXS 987 in Xp22 . 2 in one of the carriers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Because children with DMD lack dystrophin in all muscle types , including smooth muscle , the excessive blood loss may be because of a poor vascular smooth muscle vaso constrictive response due to a lack of dystrophin . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
One particularly promising use for ADVs is in the transfer of the dystrophin gene to the muscle of patients with Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The deficiency of dystrophin , a sarcolemmal associated protein , is responsible for Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is caused by mutations in the dystrophin gene , leading to the absence of the dystrophin protein in striated muscle . ^^^ On the basis of the observation that aminoglycoside treatment can suppress stop codons in cultured cells , we tested the effect of gentamicin on cultured muscle cells from the mdx mouse an animal model for DMD that possesses a premature stop codon in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
High levels of dystrophin cDNA expression , and an efficient distant transfection effect with preferential intranuclei inclusion of MF 2 vehicle , are very encouraging for the development of a new constructive strategy in gene therapy trials of DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Genotype phenotype studies of mouse models for DMD show position specific effects of the mutations upon the phenotype : mice with 5 ' defects of dystrophin have normal ERGs , those with defects in the central region have a normal b wave amplitude associated with prolonged implicit times for both the b wave and oscillatory potentials , and mice with 3 ' defects have a phenotype similar to that seen in DMD / BMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
According to the translational reading frame theory , Duchenne muscular dystrophy ( DMD ) patients harbor out of frame deletion mutations in the dystrophin gene . ^^^ We identified a Japanese DMD case who appeared to have an in frame deletion of exons 46 54 that was disclosed by Southern blot analysis using a dystrophin cDNA as a probe . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Three candidate genes in this region were investigated : the cDNA for kinase Rsk 2 involved in Coffin Lowry syndrome , the brain specific exon of a transcript in the DMD locus ( DP 140 isoform of dystrophin ) , and exon 18 of the glycerol kinase gene , which is specific to fetal brain transcripts . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in the dystrophin gene ( DMD ) and in genes encoding several dystrophin associated proteins result in Duchenne and other forms of muscular dystrophy . alpha Dystroglycan ( Dg ) binds to laminins in the basement membrane surrounding each myofibre and docks with beta Dg , a transmembrane protein , which in turn interacts with dystrophin or utrophin in the subplasmalemmal cytoskeleton . alpha and beta Dgs are thought to form the functional core of a larger complex of proteins extending from the basement membrane to the intracellular cytoskeleton , which serves as a superstructure necessary for sarcolemmal integrity . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the product of the gene mutated in Duchenne muscular dystrophy ( DMD ) is bound by its C terminus to a protein complex including the related protein dystrobrevin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The mdx mouse is an animal model for Duchenne muscular dystrophy ( DMD ) , which is caused by the absence of dystrophin . ^^^ Mdx limb muscles substantially compensate for the lack of dystrophin while the diaphragm is affected like DMD skeletal muscles . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is an inherited muscle wasting disease caused by the absence of a muscle cytoskeletal protein , dystrophin . ^^^ We have previously shown that utrophin , the autosomal homologue of dystrophin , is able to compensate for the absence of dystrophin in a mouse model of DMD ; we have therefore undertaken a detailed study of the transcriptional regulation of utrophin to identify means of effecting its up regulation in DMD muscle . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) , a severe 10 linked recessive disorder which results in progressive muscle degeneration , is due to a lack of dystrophin , a membrane cytoskeletal protein . ^^^ Utrophin is expressed , at the neuromuscular junction , in normal and DMD muscles and there is evidence that it may perform the same cellular functions as dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In this study we have carried out a mutational screening of exons 62 79 of the dystrophin gene by SSCP in 38 Italian patients with DMD / BMD and found two novel mutations at exon 70 , in 2 mentally retarded DMD patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
PURPOSE : The abnormal retinal electrophysiology observed in patients with Duchenne muscular dystrophy ( DMD ) has been attributed to an altered expression of C terminal products of the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A variation in the HINDIII restriction pattern of the dystrophin gene DMD with cDMD probe 11 14 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the product of the DMD gene , is found in neurones , where it is associated with the postsynaptic membrane . ^^^ Cognitive impairment in individuals with DMD is thought to be due to an abnormality in the neuronal membrane that is caused by lack of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a progressive muscle wasting disorder caused by the lack of a subsarcolemmal protein , dystrophin . ^^^ We have previously shown that the dystrophin related protein , utrophin is able to compensate for the lack of dystrophin in the mdx mouse , the mouse model for DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) can be diagnosed by fetal muscle biopsy and immunohistochemical staining showing the absence of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In the two Japanese DMD patients studied , the complete sequence of exon 66 of the dystrophin gene was found to be absent from the dystrophin mRNA , creating a premature stop codon in exon 67 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND : Duchenne muscular dystrophy ( DMD ) results from mutations that prevent the expression of functional dystrophin in muscle fibers . ^^^ Herpes simplex virus type 1 ( HSV 1 ) represents a potentially useful vector for treatment of DMD because it has the capacity to accommodate the 14 kb full length dystrophin cDNA and can efficiently transduce muscle cells . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DMD is a fatal disorder caused by defects in the dystrophin gene . ^^^ Recombinant adenovirus vectors ( AdV ) are considered a promising means for therapeutic delivery of a functional dystrophin gene to DMD muscles . ^^^ If AdV mediated dystrophin gene replacement in DMD is to be successful , development of a systemic delivery method for targeting the large number of diseased muscles will be required . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is caused by the absence of full length dystrophin molecules in skeletal muscle fibers . ^^^ However , in contrast to the localization of dystrophin in extrajunctional regions of muscle fibers , utrophin preferentially accumulates at the postsynaptic membrane of the neuromuscular junction in both normal and DMD adult muscle fibers . ^^^ Since it has recently been suggested that the upregulation of utrophin might functionally compensate for the lack of dystrophin in DMD , considerable interest is now directed toward the elucidation of the various regulatory mechanisms presiding over expression of utrophin in normal and dystrophic skeletal muscle fibers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In DMD , dystrophin is absent and sarcoglycan complex is greatly reduced . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We attempted to determine ( 1 ) the immunostainability of anti aciculin antibody for the 6 histochemically normal human muscles and seven muscles from boys with Duchenne muscular dystrophy ( DMD ) and 11 disease control muscles , ( 2 ) the ultrastructural localization of aciculin in normal skeletal myofibers , ( 3 ) aciculin ' s spacial relationship with dystrophin and beta spectrin , and ( 4 ) if the aciculin is ultrastructurally colocalized with dystrophin , the distance from the aciculin epitope to the epitope of the dystrophin N or C terminal domain . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a lethal recessive disease caused by the absence of dystrophin in skeletal muscle , heart and other tissues . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is absent in muscle cells from Duchenne muscular dystrophy ( DMD ) patients and mdx mice , a DMD model . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Myoblast transfer therapy ( MTT ) is a cell mediated gene transfer method aimed at the restoration of normal dystrophin expression in Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND : Dystrophin is the product of the gene that is mutated in Duchenne muscular dystrophy ( DMD ) , a progressive neuromuscular disease for which no treatment is available . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Introduction of dystrophin by gene transfer into the dystrophic muscles of Duchenne muscular dystrophy ( DMD ) patients has the possibility of triggering an immune response as many patients will not have been exposed to some ( or all ) of the epitopes of dystrophin . ^^^ These experiments demonstrate the potential risk of deleterious effects following gene therapy in DMD patients and lead us to suggest that patients enrolled in gene therapy trials should ideally have small , preferably point , mutations and evidence of ' revertant ' dystrophin positive muscle fibres . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a fatal disease caused by defects in the gene encoding dystrophin . ^^^ Gene therapy efforts aimed at supplying a normal dystrophin gene to DMD muscles could be hampered by host immune system recognition of dystrophin as a `` foreign ' ' protein . ^^^ In contrast , a closely related protein called utrophin is not foreign to DMD patients and is able to compensate for dystrophin deficiency when overexpressed throughout development in transgenic mice . ^^^ In this study , dystrophin and utrophin gene transfer effects on dystrophic muscle function were directly compared in the murine ( mdx ) model of DMD using E1 / E3 deleted adenovirus vectors containing either a dystrophin ( AdV Dys ) or a utrophin ( AdV Utr ) transgene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) , a severe 10 linked recessive disorder that results in progressive muscle degeneration , is due to a lack of dystrophin , a membrane cytoskeletal protein . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is an 10 linked recessive disease caused by the lack of expression of the dystrophin protein in muscle tissues . ^^^ We genetically engineered a mouse model ( mdx ) of DMD that allowed for the high level and inducible transcription of a dystrophin mini gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Basic original results of transfection of mdx mice ( DMD biological models ) with dystrophin cDNA delivered by gene gun , cationic liposomes , synthetic microspheres , viral olygopeptides and lactoferrine are summarized . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Progress in modern genetics and molecular pathology provided another breakthrough in muscular dystrophy research and , in 1987 , dystrophin was identified , a deficiency of which causes DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although the muscles of the mdx mouse lack dystrophin , the protein absent in muscles of humans affected with Duchenne muscular dystrophy ( DMD ) , the only mdx muscle to degenerate in a manner similar to those of DMD boys is the diaphragm . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is the most common and lethal genetic muscle disorder , caused by recessive mutations in the dystrophin gene . ^^^ When injected into the muscle of mdx mice ( a DMD model ) , two of the minigenes resulted in efficient and stable expression in a majority of the myofibers , restoring the missing dystrophin and dystrophin associated protein complexes onto the plasma membrane . ^^^ Thus , we have defined minimal functional dystrophin units and demonstrated the effectiveness of using AAV to deliver the minigenes in vivo , offering a promising avenue for DMD gene therapy . . ^^^ Duchenne muscular dystrophy ( DMD ) is a fatal disease caused by mutation of the gene encoding the cytoskeletal protein dystrophin . ^^^ Despite a wealth of recent information about the molecular basis of DMD , effective treatment for this disease does not exist because the mechanism by which dystrophin deficiency produces the clinical phenotype is unknown . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a severe muscle wasting disease arising from defects in the dystrophin gene , typically nonsense or frameshift mutations , that preclude the synthesis of a functional protein . ^^^ We report an alternative approach where 2 ' O methyl antisense oligoribonucleotides have been used to modify processing of the dystrophin pre mRNA in the mdx mouse model of DMD . ^^^ This approach should reduce the severity of DMD by allowing a dystrophic gene transcript to be modified , such that it can be translated into a Becker dystrophin like protein . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) and mdx mouse dystrophy result from mutations in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin in myenteric neurones might play a role in cytoskeletal organization , axonal transport and signal pathways ; its lack might cause the intestinal motor abnormalities reported in DMD patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To study the evolution of the DMD gene and the significance of its various products , we have searched for genes encoding dystrophin like proteins in sea urchin and in Drosophila . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A novel splice site mutation ( 3157+1G > T ) in the dystrophin gene causing total exon skipping and DMD phenotype . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
This suggests that enhanced expression of the alpha 7 beta 1 integrin may provide a novel approach to treat DMD and other muscle diseases that arise due to defects in the dystrophin glycoprotein complex . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin and Dp 71 , two products of the DMD gene , show a different pattern of expression during embryonic development in zebrafish . ^^^ Dystrophin , the protein defective in Duchenne muscular dystrophy ( DMD ) , plays a critical role in the formation and maintenance of the neuromuscular junction . ^^^ In addition to dystrophin , activation of internal promoters of the DMD gene leads to the production of several short products . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The procedures for making prenatal diagnosis of DMD and determining the origin of NRBCs proceeded at the same time using sex determination and linkage analysis of several STR loci of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
By contrast , the utrophin dystrophin knockout ( dko ) mouse shows severe dystrophic changes in cardiac muscle , that more closely resembles DMD cardiomyopathy than mdx mouse . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in the dystrophin gene lead to dystrophin deficiency , which is the cause of Duchenne muscular dystrophy ( DMD ) . ^^^ To decipher the molecular mechanisms induced by a lack of dystrophin , we started identifying genes whose expression is altered in DMD skeletal muscles . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Large deletions in the dystrophin gene account for > 60 % of mutations responsible for Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dp 71 is a member of the dystrophin family and the most abundant dmd gene product in the brain . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne ' s muscular dystrophy ( DMD ) is a fatal disease caused by mutations in the DMD gene that lead to quantitative and qualitative disturbances in dystrophin expression . ^^^ An alternative strategy for DMD therapy , that circumvents many of these problems , has arisen from the demonstration that the DRP utrophin can functionally substitute for the missing dystrophin and its overexpression can rescue dystrophin deficient muscle . ^^^ Currently , a promising avenue of research consists of identifying molecules that would increase the expression of utrophin and the delivery of these molecules to dystrophin deficient tissues as a means of DMD therapy . ^^^ Additionally , we will address the techniques used for anatomical , biochemical and physiological evaluation of the potential benefits of this and other forms of DMD therapy in dystrophin deficient animal models . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Since the causative gene of Duchenne muscular dystrophy ( DMD ) , the most severe and abundant form of muscular dystrophy , the DMD gene , and its product dystrophin was isolated by positional cloning by Dr . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in the gene encoding dystrophin , a large cytoskeletal protein in muscle , lead to Duchenne muscular dystrophy ( DMD ) . ^^^ Here we report a new procedure to transfer the full length dystrophin cDNA into the diaphragm muscle of Dmd ( mdx / mdx ) mice , which carry a mutation in the dystrophin gene ( Dmd ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , a protein associated with sarcolemma and cell membranes , is not expressed in sufferers of Duchenne muscular dystrophy ( DMD ) , or in the mdx mouse . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in the human dystrophin gene are implicated in the fatal muscle wasting disease Duchenne Muscular Dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin deficiency causes Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Comparative evolution of muscular dystrophy in diaphragm , gastrocnemius and masseter muscles from old male mdx mice . 10 chromosome linked muscular dystrophic mdx mouse lacks the sarcolemmal protein dystrophin and represents a genetic homologue of human Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne Muscular Dystrophy ( DMD ) originates from deleterious mutations in the dystrophin gene , with a complete loss of the protein product . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The very good results obtained during the last two years in primates permit us to undertake a new phase 1 clinical trial to verify that myoblast transplantation can lead to the formation of muscle fibers expressing normal dystrophin in muscles of DMD patients . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in the DMD gene coding for the protein dystrophin causes the severe muscle wasting disorder leading to death in the second decade of life . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
They hold great promise for gene therapy of diseases such as Duchenne muscular dystrophy ( DMD ) , because they are less immunogenic than E1 / E3 deleted Ad ( first generation Ad or FGAd ) and can carry the full length ( Fl ) dystrophin ( dys ) cDNA ( 12 kb ) . ^^^ The characterization of these enhancing gene products followed by their inclusion into an HDAd may be required to produce sufficient dystrophin to mitigate the pathology of DMD by HDAd mediated gene transfer . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The pathogenesis of Duchenne muscular dystrophy ( DMD ) , characterised by lack of the cytoskeletal protein dystrophin , is not completely understood . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
PURPOSE : Canine 10 linked progressive retinal atrophy ( XLPRA ) is a hereditary , progressive retinal degeneration that has been mapped previously to the canine 10 chromosome in a region flanked by the dystrophin ( DMD ) and tissue inhibitor of metalloproteinase 1 ( TIMP 1 ) genes , and is tightly linked to the gene RPGR . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is an inherited , severe muscle wasting disease caused by the loss of the cytoskeletal protein , dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In particular , discovery of the DMD gene product , dystrophin , led to the identification of dystrophin associated proteins and , subsequently , the recognition of other types of muscular dystrophy caused by the defects in each of the sarcoglycan genes . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Failure of drug therapy of Duchenne muscular dystrophy ( DMD ) stimulated intense search for adequate methods of gene therapy ( GT ) which would ensure effective delivery of the dystrophin ( D ) gene , its long term persistence in transfected cells , and its expression in muscle fibers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , sarcoglycans , and telethonin were normal in all LGMD2B patients , while patients with sarcoglycanopathies ( 2C , 2D , and 2E ) , LGMD2A , LGMD2G , and DMD showed the presence of a normal dysferlin band by Western blot and a positive pattern on IF . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein responsible for Duchenne Muscular Dystrophy ( DMD ) , plays a critical role in the maintenance of the muscle membrane integrity . ^^^ There are several forms of dystrophin derived from the DMD gene by alternative promoter usage . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a progressive degenerative muscular disease that is due to mutations in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
More than 98 % of Duchenne muscular dystrophy ( DMD ) mutations result in the premature termination of the dystrophin open reading frame at various points over its 11 kb length . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is caused by defects in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
RESULTS : Using denaturing high performance liquid chromatography ( DHPLC ) screening and direct sequencing , 86 PCR amplicons of genomic DNA from the dystrophin gene were screened for mutations in eight patients diagnosed with DMD who had tested negative for large DNA rearragements . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is an 10 linked recessive muscle wasting disease caused by the absence of a muscle cytoskeletal protein , dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is characterized by progressive muscle degeneration that results from the absence of dystrophin . ^^^ Despite null mutations in the dystrophin gene , many DMD patients display a low percentage of dystrophin positive fibers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
These results suggest that PIN expression in muscles from mdx mice and DMD patients is controlled by factors different from those involved in the regulation of nNOS and dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is the most prevalent inherited muscle disease and results from mutations / deletions in the 10 linked dystrophin gene . ^^^ One strategy consists in utilizing a protein normally expressed in DMD muscle which , once expressed at appropriate levels and at the correct subcellular location , could compensate for the lack of dystrophin . ^^^ In contrast to dystrophin , which is expressed along the length of healthy muscle fibers , utrophin accumulates at the neuromuscular junction in both normal and DMD fibers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) , the severe 10 linked recessive disorder which results in progressive muscle degeneration , is due to a lack of dystrophin , a membrane cytoskeletal protein . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In fact , abnormal regulation of calcium have been shown in deficient dystrophin cells like Duchenne muscular dystrophy ( DMD ) cells , and it seemed interesting to study the calcium regulation in a pathologic cellular model which express dystrophin . ^^^ Since FSHD cells , contrary to DMD ( Duchenne muscular dystrophy ) cells , seemed to display both dystrophin expression and unaltered calcium regulation , the FSHD co cultured cells appeared as a useful model of dystrophin expressing pathological muscle cells to further investigate the link between dystrophin expression and intracellular calcium level regulation . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in dystrophin cause Duchenne muscular dystrophy ( DMD ) , but absent dystrophin does not invariably cause necrosis in all muscles , life stages and species . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
An important aspect of DMD that has received less attention is the role played by the absence or disruption of dystrophin on CNS function . ^^^ In this review we concentrate on insights into this role gained from investigation of boys with DMD and the genetically most relevant animal model of DMD , the dystrophin deficient mdx mouse . ^^^ In DMD boys , there is evidence of disordered CNS architecture , abnormalities in dendrites and loss of neurones , all associated with neurones that normally express dystrophin . ^^^ Functionally , DMD boys have EEG abnormalities and there is some preliminary evidence that synaptic function is affected adversely by the absence of dystrophin . ^^^ These recent findings on the role of dystrophin in the CNS have implications for the clinical management of boys with DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Nonsense mutations in the dystrophin gene are the cause of Duchenne muscular dystrophy ( DMD ) in 10 15 % of patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is an 10 linked lethal disorder caused by a defect in the DMD gene , which encodes the cytoskeletal protein dystrophin . ^^^ Utrophin is an autosomal homolog of the DMD gene product dystrophin , and augmented expression of endogenous utrophin is expected to provide an alternative therapeutic approach to DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Attempts to develop gene therapy for Duchenne muscular dystrophy ( DMD ) have been complicated by the enormous size of the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrobrevin disappears from the muscle membrane in Duchenne muscular dystrophy ( DMD ) , which results from dystrophin mutations , as well as in limb girdle muscular dystrophies ( LGMD ) , which results from mutations affecting other members of the DGC complex . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Golden retriever muscular dystrophy ( GRMD ) , a degenerative myopathy due to the absence of dystrophin , is genetically homologous to human Duchenne muscular dystrophy ( DMD ) . ^^^ Such `` phase 1 ' ' lesions due to the absence of dystrophin are found in all species in which dystrophin deficiency has been described ( human beings , dogs , cats and mice ) , whereas the endomysial fibrosis and myofibre atrophy found in 2 month old GRMD dogs constituted `` phase 2 ' ' lesions , which are specific to GRMD and human DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is characterized by the absence of dystrophin and an elevated intracellular calcium level . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a congenital 10 linked myopathy caused by lack of dystrophin protein expression . ^^^ In DMD , the expression of many dystrophin associated proteins ( DAPs ) is reduced along the sarcolemmal membrane , but the same proteins remain concentrated at the neuromuscular junction where utrophin , a dystrophin homologue , is expressed [ Matsumura , K . , Ervasti , J . ^^^ These data suggest that ectopic expression of the CT GalNAc transferase creates a functional dystrophin related complex along myofibers in the absence of dystrophin and should be considered as a target for therapeutic intervention in DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Skeletal muscles of patients with Duchenne muscular dystrophy ( DMD ) and mdx mice lack dystrophin and are more susceptible to contraction induced injury than control muscles . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DMD ( mdx3Cv ) and DMD ( mdx4Cv ) dystrophin mutations in mice : rapid polymerase chain reaction genotyping . ^^^ We devised non radioactive PCR assays for the DMD ( mdx3Cv ) and DMD ( mdx4Cv ) mouse dystrophin point mutations , in which mutant and wild type reactions electrophoresed separately diagnose whether the DNA carries the mutant , wild type , or both alleles . ^^^ This simple and reliable assay facilitates the use of these mutant mouse models , which have an extended inflammatory phase ( DMD ( mdx3Cv ) ) , less reversion to wild type ( DMD ( mdx4Cv ) ) , and reduced expression of dystrophin mRNAs arising from internal promoter usage than the DMD ( mdx ) mouse . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48 50 DMD cells . ^^^ Deletions and point mutations in the dystrophin gene cause either the severe progressive myopathy Duchenne muscular dystrophy ( DMD ) or the milder Becker muscular dystrophy , depending on whether the translational reading frame is lost or maintained . ^^^ In this paper we show that antisense molecules against exon 51 splice junctions are able to direct skipping of this exon in the human DMD deletion 48 50 and to rescue dystrophin synthesis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The ability to transfer the dystrophin gene stably to the skeletal muscle of DMD patients is a major confounding issue in establishing an effective gene therapy for this disease . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Based on the results from the molecular analysis of dystrophin Kobe , we propose a novel molecular therapeutic method for DMD in which antisense oligonucleotides transform DMD into a milder phenotype by inducing exon skipping . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Topography of three genetic elements dystrophin ( dmd ) exons 5 7 ( E ( 1 ) ) , 46 47 ( E ( 2 ) ) , and centromere of chromosome 10 ( N ( 10 ) ) were studied relative to cell nuclei and to chromosome 10 territories of spatially fixed human lymphocytes . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) results from mutations in the dystrophin gene . ^^^ They were 12 males affected with DMD and two obligate female carriers ; two female carriers of known dystrophin point mutations were also analyzed . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in the dystrophin gene result in Duchenne muscular dystrophy ( DMD ) . ^^^ In a dramatic example , a ' micro dystrophin ' transgene containing only four dystrophin spectrin like repeats resulted in complete correction of most of the symptoms associated with dystrophy in the mdx mouse model for DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Lack of dystrophin is known to be the cause of Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The mdx mouse is a model for human Duchenne muscular dystrophy ( DMD ) , an 10 linked degenerative disease of skeletal muscle tissue characterized by the absence of the dystrophin protein . ^^^ After the first week of life when all mdx muscles evolve like muscles of young DMD patients , mdx hindlimb muscles substantially compensate for the lack of dystrophin , whereas mdx diaphragm muscle becomes progressively affected by the disease . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The lethal consequences of DMD are caused by absence of a structural protein , called dystrophin , from skeletal and cardiac muscle cells . ^^^ Successful gene therapy of DMD will require a vector that can carry most of the dystrophin coding sequence , that can be cheaply produce in large quantities , that can be delivered to a large mass of muscle cells , and that provides stable expression of dystrophin after delivery . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Immune response to full length dystrophin delivered to Dmd muscle by a high capacity adenoviral vector . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is the product of the gene mutated in Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a severe progressive muscle wasting disorder caused by mutations in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a fatal childhood disease caused by mutations that abolish the expression of dystrophin in muscle . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Reduced sarcolemmal integrity in dystrophin deficient muscles of mdx mice and Duchenne muscular dystrophy ( DMD ) patients has been reported to result in altered calcium homeostasis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The basis for cognitive impairment in Duchenne muscular dystrophy ( DMD ) is not well understood but may be related to abnormal expression of dystrophin in brain . ^^^ The aim of this study was to determine whether regional brain glucose metabolism is altered in children with DMD and whether such metabolic disturbances are localized to regions shown to be normally rich in dystrophin expression . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The primary cause of Duchenne muscular dystrophy ( DMD ) is a mutation in the dystrophin gene leading to the absence of the corresponding RNA transcript and protein . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND : Duchenne muscular dystrophy ( DMD ) is a fatal genetic disorder caused by dystrophin gene mutations that preclude synthesis of a functional protein . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin loss in cells involved in gastrointestinal motility might explain the gastrointestinal symptomatology affecting DMD patients and mdx mice . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is associated with cognitive deficits that may result from a deficiency in the brain isoform of the cytoskeletal membrane associated protein , dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is an 10 linked recessive disorder , characterized by a lack of dystrophin . ^^^ Our results demonstrated the capability of permanently expressing a full length dystrophin in dystrophic myoblasts with HSV 1 amplicon vector and raised the possibility of an eventual treatment of DMD based on the transplantation of genetically modified autologous myoblasts . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Moreover , utrophin , a recently identified structural homologue of dystrophin is reported to be up regulated in DMD . ^^^ In order to investigate the association between utrophin and muscle regeneration in DMD , an immunohistochemical study using antibodies to utrophin , dystrophin , vimentin and desmin was carried out in 17 cases of DMD , 3 cases of polymyositis and 1 case of dermatomyositis . ^^^ Dystrophin was negative in almost all cases of DMD , but positive in all cases of inflammatory myopathy ( IM ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In this study , we investigated the involvement of the blood brain barrier ( BBB ) in the brain of the dystrophin deficient mdx mouse , an experimental model of Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The primary cause of Duchenne muscular dystrophy ( DMD ) is a mutation in the dystrophin gene , leading to absence of the corresponding protein , disruption of the dystrophin associated protein complex , and substantial changes in skeletal muscle pathology . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
For this reason , utrophin transfer to dystrophin deficient muscle appears as a promising therapeutic approach to DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A recent report that aminoglycoside antibiotics restored the expression of functional dystrophin to skeletal muscles of mdx mice , a model of Duchenne muscular dystrophy ( DMD ) , raised hopes that DMD may be treatable by a conventional drug . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is absent in muscle fibers of patients with Duchenne muscular dystrophy ( DMD ) and in muscle fibers from the mdx mouse , an animal model of DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The hypothesis that intron length might be functionally relevant to the DMD gene regulation is proposed and substantiated by the finding that dystrophin intron gigantism is common to the three vertebrate genes . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) , caused by the absence of dystrophin , is associated with decreased muscle cell proliferation . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin mRNA expressed in peripheral lymphocytes of individuals with 10 linked Duchenne muscular dystrophy ( DMD ) has been used as a source material for mutation analysis . ^^^ Here we present the first report of failure of isolation of nonsense dystrophin mRNA in lymphocytes but success in skeletal muscle in a female carrier of DMD . ^^^ We concluded that the dystrophin mRNA of the DMD carrier was destabilized in lymphocytes . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Here , we will review present pharmacological strategies , in particular those dealing with functional substitution of dystrophin by utrophin and enhancing muscle progenitor commitment by myostatin blockade , with a view toward facilitating drug discovery for DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The loss of heterozygosity of polymorphic dinucleotide loci at `` deletional hotspot ' ' of dystrophin gene can provide direct evidence of carrier status in female relatives of affected DMD patients with overlapped exonic deletions . ^^^ We have used 4 STR loci of the central deletional hotspot of the dystrophin gene for genetic analysis in sporadic unrelated DMD families . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND : Duchenne muscular dystrophy ( DMD ) is an 10 linked recessive muscle wasting disorder characterised by the absence of the protein dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The abnormal retinal neurotransmission observed in Duchenne muscular dystrophy ( DMD ) patients and in some genotypes of mice lacking dystrophin has been attributed to altered expression of short products of the dystrophin gene . ^^^ Analysis of DMD gene products , utrophin and dystrophin associated proteins ( DAPs ) , showed that Dp 71 and utrophin were localized around the blood vessels , in the ganglion cell layer ( GCL ) , and the inner limiting membrane ( ILM ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although dystrophin mutations are the proximate cause of Duchenne muscular dystrophy ( DMD ) , interactions among heterogeneous downstream mechanisms may be key phenotypic determinants . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is caused by the absence of dystrophin , which triggers complex molecular and biological events in skeletal and cardiac muscle tissues . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein product of the Duchenne muscular dystrophy ( DMD ) gene , is absent in the skeletal muscle of DMD patients and mdx mice . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a common genetic disease resulting from mutations in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients . 66 unrelated patients from Southern India with Duchenne Muscular Dystrophy ( DMD ) were studied for intragenic deletion in 18 exons and Pm region of the DMD gene using multiplex PCR . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
OBJECTIVE : Duchenne muscular dystrophy ( DMD ) is the most common and letal genetic skeletal muscle disorder , caused by recessive mutations in the dystrophin gene and no treatment is available . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
OBJECTIVE : To study the exons deletion mechanisms for dystrophin gene , the molecular characters of breakpoints of junction fragments for deletion type Duchenne muscular dystrophy ( DMD ) patients with 46 and 51 exons deletion were compared and analyzed . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
METHODS : A multiplex PCR ( mPCR ) protocol was applied to detect the dystrophin gene of the female DMD patient and her family members , whose haplotypes were analyzed in light of short tandem repeat polymorphism ( STR ) of five microsatellite markers ( located in 5 ' terminus and introns 44 , 45 , 49 , and 50 ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne ' s muscular dystrophy ( DMD ) is a lethal muscle disease caused by a lack of dystrophin expression at the sarcolemma of muscle fibers . ^^^ We investigated retroviral vector delivery of dystrophin in dystrophin deficient DMD ( mdx ) ( hereafter referred to as mdx ) mice via an ex vivo approach using mdx muscle derived stem cells ( MDSCs ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Patients with Duchenne muscular dystrophy ( DMD ) , an 10 linked lethal muscle wasting disease , have abnormal expression of the protein dystrophin within their muscle fibres . ^^^ In the mdx mouse model of this condition , both germline and neonatal somatic gene transfers of dystrophin cDNAs have demonstrated the potential of gene therapy in treating DMD . ^^^ However , in many DMD patients , there appears to be no dystrophin expression when muscle biopsies are immunostained or western blots are performed . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne ' s muscular dystrophy ( DMD ) is a lethal childhood disease caused by mutations of the dystrophin gene , the protein product of which , dystrophin , has a vital role in maintaining muscle structure and function . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In the course of a mutation search performed by muscle dystrophin transcript analysis in 72 Duchenne and Becker Muscular Dystrophies ( DMD / BMD ) patients without gross gene defect , we encountered four unrelated cases with additional out of frame sequences precisely intercalated between two intact exons of the mature muscle dystrophin mRNA . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a devastating 10 linked muscle disease characterized by progressive muscle weakness caused by the lack of dystrophin expression at the sarcolemma of muscle fibers . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in dystrophin are the proximate cause of Duchenne muscular dystrophy ( DMD ) , but pathogenic mechanisms linking the absence of dystrophin from the sarcolemma to myofiber necrosis are not fully known . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin deficiency , which leads to severe and progressive muscle degeneration in patients with Duchenne muscular dystrophy ( DMD ) , is caused by frameshifting mutations in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In this paper , we report that negamycin , a dipeptide antibiotic , also restores dystrophin expression in skeletal and cardiac muscles of the mdx mouse , an animal model of Duchenne muscular dystrophy ( DMD ) with a nonsense mutation in the dystrophin gene , and in cultured mdx myotubes . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is absent in muscle and CNS of both DMD patients and mdx mouse , a model of DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Here we present immunocytochemical localization of beta dystroglycan , the central member of the DGC , utrophin and Dp71f , the spliced 71 kDa dystrophin protein product of the DMD gene , in cultured retinal Muller glial cells . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although mdx mice share the same genetic defect and lack dystrophin expression as in Duchenne muscular dystrophy ( DMD ) , their limb muscles have a high regenerative capacity that ensures a more benign phenotype and essentially normal function . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
OBJECTIVE : Mutations in the dystrophin gene causing Duchenne ' s muscular dystrophy ( DMD ) lead to premature stop codons . ^^^ In mice lacking dystrophin ( mdx mice ) , a model for DMD , these mutations can be suppressed by aminoglycosides such as gentamicin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A reported case of DMD due to missense mutation C3340Y may be caused by inability to fix dystrophin beneath the cell membrane . ( 4 ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin gene transfer using helper dependent adenoviral vectors ( HDAd ) deleted of all viral genes is a promising option to treat muscles in Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a lethal , 10 linked , recessive disease caused by a defect in the dystrophin gene . ^^^ Dystrophin gene transfer to skeletal muscle has been proposed as a treatment for DMD . ^^^ However , successful treatment for DMD requires restoration of dystrophin in the affected muscle fibers to at least 20 % of the normal level . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
One of the possible therapies for Duchenne muscular dystrophy ( DMD ) is the introduction of a functional copy of the dystrophin gene into the patient . ^^^ However , immune responses to the newly expressed dystrophin have been predicted , particularly in DMD patients who express no dystrophin or only very truncated versions . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mutations in genes coding for the dystrophin glycoprotein complex ( DGC ) cause inherited muscular dystrophies ( MD ) , including Morbus Duchenne ( DMD ) and M . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Despite a wealth of recent information about the molecular basis of Duchenne muscular dystrophy ( DMD ) , there is no effective treatment for this condition because the mechanism how dystrophin deficiency produces the muscle fiber degradation is unknown . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is an 10 linked , lethal muscle disorder caused by mutations in the dystrophin gene . ^^^ Although an adeno associated virus ( AAV ) vector mediated gene transfer provides an attractive approach to the treatment of DMD , limitation in insertion size up to 4 . 9 kb excludes incorporation of a full length dystrophin cDNA ( 14 kb ) into an AAV vector . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Therefore , significant dystrophin expression can be obtained in teh skeletal muscles of DMD patients following specific conditions of cell delivery and immunosuppression . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Mdx mice , an animal model lacking in full length dystrophin and used to study Duchenne muscular dystrophy ( DMD ) , show gastric dismotilities . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Necrosis of skeletal muscle fibers in the lethal childhood myopathy Duchenne muscular dystrophy ( DMD ) results from defects in the cell membrane associated protein , dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In order to ascertain whether the alterations of the blood brain barrier ( BBB ) seen in adult dystrophic mdx mice [ Glia 42 ( 2003 ) 235 ] , a human model of Duchenne muscular dystrophy ( DMD ) , are developmentally established and correlated with other dystrophin isoforms which are localized at the glial vascular interface , we used immunocytochemistry to investigate the expression of dystrophin isoforms ( Dp 71 ) during BBB development in mdx fetuses and in adult mice . ^^^ These results demonstrate that a reduction in dystrophin isoforms ( Dp 71 ) at glial endfeet leads to an altered development of the BBB , whose no closure might contribute to the neurological dysfunctions associated with DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
To address this question , we generated heterozygous mice that persistently expressed the full length dystrophin gene in 50 % of the cardiomyocytes of mdx mice , a model for DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
CONCLUSION : The STR haploid linkage analysis using ( CA ) n repeats within the human dystrophin gene is a rapid , accurate , objective method and is well suited for routine use in clinical laboratories engaged in DMD / BMD linkage analysis for the detection of carrier . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Spinal deformity in the form of kyphosis or kyphoscoliosis occurs in most patients with Duchenne muscular dystrophy ( DMD ) , a fatal 10 linked disorder caused by an absence of the subsarcolemmal protein dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Adenoviral ( Ad ) vector mediated gene delivery of normal , full length dystrophin to skeletal muscle provides a promising strategy for the treatment of Duchenne muscular dystrophy ( DMD ) , an 10 linked recessive , dystrophin deficient muscle disease . ^^^ This study demonstrates that the coexpression of mCTLA4Ig and dystrophin in skeletal muscle provided by HC Ad vector mediated gene transfer can provide stable expression of dystrophin in immunocompetent , adult mdx mouse muscle and applies a potentially powerful strategy to overcome adaptive immunity induced by Ad vector mediated dystrophin gene delivery toward the ultimate goal of treatment for DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Detection of micro mutation in dystrophin gene of DMD female carrier ] . ^^^ We attempted to identify a mutation in dystrophin gene in a female patient who was suspected a Duchenne muscular dystrophy ( DMD ) carrier with muscle weakness of upper limbs and congestive heart failure . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In the present study , the susceptibility of the mdx mouse , a dystrophin deficient genetic model of Duchenne muscular dystrophy ( DMD ) , to various convulsant stimuli has been evaluated and compared to three related mice strains ( C57BL / 6J , C57BL / 10 and DBA / 2 mice ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a severe disease of skeletal muscle , characterized by an 10 linked recessive inheritance and a lack of dystrophin in muscle fibres . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The mdx mouse is the most commonly used animal model for Duchenne muscular dystrophy ( DMD ) , a disease caused by the absence of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The mdx ( muscular dystrophy 10 linked ) mouse is a model for human Duchenne muscular dystrophy ( DMD ) and is characterized by the absence of the cytoskeletal protein dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Editing of dystrophin mRNA by induction of exon skipping , using antisense oligonucleotides , has been proposed as one way to generate dystrophin expression in Duchenne muscular dystrophy ( DMD ) patients . ^^^ In a Japanese DMD case , a nonsense mutation ( R1967X ) due to a single nucleotide change in exon 41 of the dystrophin gene ( C5899T ) was identified . ^^^ Our results suggest that an RNA / ENA chimera can be used to express dystrophin in DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In Duchenne muscular dystrophy ( DMD ) , a lethal disease that is caused by the lack of the cytoskeletal protein dystrophin , the cytosolic calcium concentration is known to be increased , and this increase may lead to cell necrosis . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is caused by mutations in the dystrophin gene on the 10 chromosome that result in skeletal and cardiac muscle damage and premature death . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Impaired long term spatial and recognition memory and enhanced CA 1 hippocampal LTP in the dystrophin deficient Dmd ( mdx ) mouse . ^^^ Duchenne muscular dystrophy ( DMD ) is associated with cognitive deficits that may result from dystrophin deficiency in neurons . ^^^ However , in the dystrophin deficient Dmd ( mdx ) mouse model of DMD , the nature of the memory impairment is not well characterised and its biological substrate is uncertain . ^^^ Here , we demonstrate that dystrophin deficiency in Dmd ( mdx ) mice impairs long term , but not short term , object recognition memory and impairs long term spatial memory , but not acquisition , following massed training in the water maze . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although the majority ( 65 % ) of boys with Duchenne muscular dystrophy ( DMD ) carry a deletion in the dystrophin gene , finding mutations in the remaining families is vital for counselling . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne ' s muscular dystrophy ( DMD ) is a fatal neuromuscular disease caused by absence of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Adenoviral vector ( Ad ) mediated gene delivery of normal , full length dystrophin to skeletal muscle provides a promising strategy for the treatment of Duchenne muscular dystrophy ( DMD ) . ^^^ In this study we explore the potential of supplementing dystrophin gene delivery to dystrophin deficient Dmd mouse skeletal muscle with systemic gene delivery of CTLA4Ig and CD40Ig molecules to effect costimulatory blockade . ^^^ The results suggested that coblockade of both CD28 / B7 and CD40L / CD40 costimulatory pathways is required for effective inhibition of the Ad vector induced humoral immune response in Dmd mice , whereas blockade of CD28 / B7 alone by murine CTLA4Ig would be sufficient for prolonged dystrophin expression in treated muscle . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In a mouse model of DMD , dystrophin gene transfer to muscle in utero using an HC Ad vector restored the dystrophin associated glycoproteins . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a lethal disorder of skeletal muscle caused by mutations in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although gene therapy will likely provide the cure for DMD , it remains on the distant horizon , emphasizing the need for more rapid development of palliative treatments that build on improved understanding of the complex pathology of dystrophin deficiency . ^^^ Each of these general approaches to slowing the pathology of dystrophin deficiency has yielded encouragement and suggests that targeting downstream events in dystrophinopathy can yield worthwhile , functional improvements in DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a neuromuscular disease linked to the lack of the dystrophin , a submembrane protein , leading to muscle weakness and associated with a defect of the lipid metabolism . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND : Duchenne muscular dystrophy ( DMD ) is caused by the absence of the muscle cytoskeletal protein dystrophin . ^^^ The utrophin gene has two promoters , A and B , and promoter A of the utrophin gene is a possible target of pharmacological interventions for DMD because A utrophin is up regulated in dystrophin deficient mdx skeletal and cardiac muscles . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND : The absence of functional dystrophin in Duchenne muscular dystrophy ( DMD ) patients and in mdx mice results in progressive muscle degeneration associated with necrosis , fibrosis , and inflammation . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Defects in the dystrophin gene cause the severe degenerative muscle disorder , Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Antisense oligonucleotide mediated alternative splicing has great potential for treatment of Duchenne muscular dystrophy ( DMD ) caused by mutations within nonessential regions of the dystrophin gene . ^^^ However , because DMD affects muscles body wide , effective treatment requires dystrophin induction ideally in all muscles . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is an 10 linked , lethal muscle disorder caused by mutations in the dystrophin gene . ^^^ In conclusion , deltaCS 1 micro dystrophin introduced by an AAV vector could be a powerful tool for the gene therapy of DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DMD is an 10 linked disorder with defective expression of the protein dystrophin , and which is associated with a reduced b wave and has other electro retinogram ( ERG ) abnormalities . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is caused by mutation in the 2 . 4 Mb dystrophin ( DMD ) gene . ^^^ Introduction of a loxP site in dystrophin ' s first and last exon by homologous recombination in mouse embryonic stem ( ES ) cells generated `` DMD floxed ' ' ( flanked by loxP sites ) ES cells , which we subjected to Cre mediated excision leading to establishment of `` DMD null ' ' ES cell lines . ^^^ The DMD floxed mice produced from the DMD floxed ES cells were viable , phenotypically normal , and were born with the expected Mendelian frequency , despite the absence of brain ( cortical ) type dystrophin ( Dp427c ) expression . ^^^ Since production of multiple dystrophin isoforms due to alternative splicing or exon skipping is totally prevented in the DMD null mouse , these new mutants will provide an improved model system for functional studies of dystrophin and its isoforms . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DMD was prenatally diagnosed by using the combination of sex determination , multiplex PCR and linkage analysis of several STR sites of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Thus , BCL 2 mediated apoptosis appears to play a significant role in pathogenesis of laminin alpha 2 deficiency , but not of dystrophin deficiency , suggesting that therapies designed to ameliorate disease by inhibition of apoptosis are more likely to succeed in MDC1A than in DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin , the protein defective in Duchenne muscular dystrophy ( DMD ) is widely expressed in the Central Nervous System . ^^^ Activation of internal promoters of the DMD gene leads to the production of several proteins , the Dystrophin 71 ( Dp 71 ) being the most abundant in the encephalon . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Null mutation of dystrophin causes the lethal pathology of Duchenne muscular dystrophy ( DMD ) in which there is progressive pathology of skeletal and cardiac muscles . ^^^ A large proportion of DMD patient deaths are attributable to cardiac dysfunction associated with ventricular fibrosis , arrhythmias and conduction abnormalities , although the relationships between the dystrophin mutation and the cardiac defects are unknown . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Over the years , a variety of different approaches have been explored in an effort to compensate for the lack of the DMD gene product called dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) , a severe progressive muscle wasting disease due to a mutation in the dystrophin gene and the mdx mouse , an animal model for DMD , are characterized by the absence of the muscle membrane associated protein , dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND . : Duchenne muscular dystrophy ( DMD ) is caused by a dystrophin gene mutation . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In the dystrophin gene , a transition from G to A at the fifth position of intron 32 ( 4518+5G > A ) has been reported as a polymorphism within the consensus sequence or a mutation identified in Duchenne muscular dystrophy ( DMD ) . ^^^ In one Japanese DMD case , two novel dystrophin mRNAs were identified in the patient ' s lymphocytes , one with a 98 bp deletion of the 3 ' end of exon 32 ( dys 32 98 ) and the other with a 28 bp intron retained between exons 32 and 33 ( dys 32 + 28 ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The genetic basis of DMD is relatively well understood as it is due to mutations in the dystrophin gene that encodes the cognate sarcolemmal protein . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Considering dystrophin expression in normal vascular smooth muscle cells , these results altogether suggest a selective defect of primary hemostasis in DMD , likely to be due to impaired vessel reactivity . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND : Duchenne muscular dystrophy ( DMD ) , caused by mutations in the dystrophin gene , is lethal . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The loss of dystrophin in patients with Duchenne muscular dystrophy ( DMD ) causes devastating skeletal muscle degeneration and cardiomyopathy . ^^^ Dystrophin deficient ( mdx ) mice have a much milder phenotype , whereas double knockout ( DKO ) mice lacking both dystrophin and its homolog , utrophin , exhibit the clinical signs observed in DMD patients . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
We observed a two fold increase ( P < 0 . 005 ; t ) in dystrophin protein , accompanied by wild type ( wt ) DMD transcript in muscles injected with corrective nucleic acid over contralateral saline injected TAs . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Recent studies using antisense oligonucleotide targeted exon skipping to induce near normal dystrophin in vivo in animal models , and in vitro in DMD cell lines , highlight the promise of this approach . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The absence of dystrophin in Duchenne muscular dystrophy ( DMD ) leads to sarcolemmal instability and enhances the susceptibility of muscle fibers to contraction induced injury . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin deficiency causes Duchenne muscular dystrophy ( DMD ) in humans , an inherited and progressive disease of striated muscle deterioration that frequently involves pronounced cardiomyopathy . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
However , it is very difficult to find patients that are applicable for this therapy , because : ( 1 ) only 5 13 % of DMD patients have nonsense mutations in the dystrophin gene , ( 2 ) it is challenging to find nonsense mutations in the gene because dystrophin cDNA is very long ( 14 kb ) , and ( 3 ) the efficiency of aminoglycoside induced read through is dependent on the kind of nonsense mutation . ^^^ In order to develop a system for identifying candidates that qualify for aminoglycoside therapy , fibroblasts from nine DMD patients with nonsense mutation of dystrophin gene were isolated , induced to differentiate to myogenic lineage by AdMyoD , and exposed with gentamicin . ^^^ In this study , we introduce an easy system to identify patients for this therapy and report for the first time , that dystrophin expression was detected in myotubes of DMD patients using gentamicin . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Myoblast transfer therapy can restore dystrophin expressing myofibers in mdx mice and patients with Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The dystrophin gene , which is mutated in Duchenne muscular dystrophy ( DMD ) , is the largest known human gene and is characterized by the huge size of its introns . ^^^ An unknown 98 bp insertion precisely between exons 2 and 3 was identified in one of the dystrophin mRNAs from lymphocytes of a DMD patient with a duplication of exon 2 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
BACKGROUND : Duchenne and Becker muscular dystrophies ( DMD / BMD ) are 10 linked diseases caused by mutations in the dystrophin gene at Xp21 . 2 ; they include gross deletions ( 60 % ) , duplications ( 10 % ) , and small mutations ( 30 % ) . ^^^ AIM : Segregation analysis of polymorphic short tandem ( CA ) n repeats [ STR ( CA ) n ] was used to establish and compare the haplotypes of female relatives of patients with DMD / BMD with those of the patient in order to identify the mutant dystrophin gene and thus determine each female relative ' s carrier status . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Antisense oligodeoxynucleotide against the splicing enhancer sequence ( SES ) in exon 19 of the dystrophin gene have been shown to induce exon 19 skipping and promote the expression of internally deleted dystrophin by correcting the translational reading frame in the cultured Duchenne muscular dystrophy ( DMD ) myocytes with the deletion of exon 20 . ^^^ Transfection of the antisense oligodeoxynucleotide , therefore , has been proposed as a promising means for therapeutic modification of dystrophin mRNA of DMD , a fatal disorder caused by defects in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Defective expression of dystrophin in muscle cells is the primary feature of Duchenne muscular dystrophy ( DMD ) , which is accompanied by fiber necrosis and intracellular calcium mishandling . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Antisense oligonucleotides ( AO ) can facilitate dystrophin expression via targeted exon skipping in cultured cells of Duchenne muscular dystrophy ( DMD ) patients and in the mouse model of DMD ( mdx mice ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Thus we found that dystrophin deficient DMD muscles contained significant numbers of alpha 1 syntrophin positive fibers and significant numbers of alpha 1 syntrophin negative fibers were present in dystrophin positive muscles of severe muscular dystrophy such as FCMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
The three 10 chromosome aberrations in the patient include : a pericentric inversion ( inv 1 ) that disrupted the Duchenne muscular dystrophy ( DMD ) gene , dystrophin , at Xp11 . 4 ; an Xq11 . 2q21 . 32 approximately q22 . 2 paracentric inversion ( inv 2 ) putatively affecting no genes ; and an interstitial deletion at Xq22 . 3 that results in functional nullisomy of several known genes , including a gene previously associated with 10 linked nonsyndromic mental retardation , acyl CoA synthetase long chain family member 4 ( ACSL 4 ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
All the 30 muscle biopsies of patients with Duchenne muscular dystrophy ( DMD ) showed all or majority of muscle fibers deficient for dystrophin and positive for utrophin . ^^^ In the 4 female DMD carriers there was mosaic pattern of staining for dystrophin and reciprocal positivity for utrophin . ^^^ This study shows that dystrophin staining differentiates DMD and DMD carriers from other childhood muscular dystrophies and utrophin staining is of no added value . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Genetic testing of Duchenne and Becker muscular dystrophies ( DMD / BMD ) is a difficult task due to the occurrence of deletions or duplications within dystrophin ( DMD ) gene that requires dose sensitive tests . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Direct automated capillary gel sequence analysis of dystrophin reverse transcribed polymerase chain reaction ( RT PCR ) products was carried out in 15 Duchenne muscular dystrophy ( DMD ) patient muscle biopsies ( 170 , 000 bp sequenced ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a lethal disease caused by the lack of the cytoskeletal protein dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a progressive muscle wasting disease due to a mutation in the dystrophin gene and the consequential protein deficiency in muscle . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Intronic breakpoint definition and transcription analysis in DMD / BMD patients with deletion / duplication at the 5 ' mutation hot spot of the dystrophin gene . ^^^ We have characterized the genomic breakpoints within introns 2 , 6 and 7 and identified the splicing profiles in a cohort of DMD / BMD patients with deletion of dystrophin exons 3 7 , 3 6 and duplication of exons 2 4 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
A promising pharmacological treatment for DMD aims to increase levels of utrophin , a homolog of dystrophin , in muscle fibers of affected patients to compensate for the absence of dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is caused by mutations in the dystrophin gene ( DMD ) , making it amenable to gene or cell based therapies . ^^^ Importantly , the accumulation of beta dystroglycan along the membranes of vector treated DMD myotubes indicated proper assembly of dystrophin associated glycoprotein complexes . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Although the level of dystrophin expression achieved varies considerably between muscles , antisense therapy may provide a realistic hope for the treatment of a majority of individuals with DMD . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Researchers have attempted to use gene and cell based therapies to restore dystrophin and alleviate the muscle weakness that results from Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Antisense oligonucleotides ( AOs ) with 2 O methyl modifications can circumvent dystrophin mutations via exon skipping and , it is hoped , can become drugs for treatment of Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a progressive muscle wasting disease resulting from lack of the sarcolemmal protein dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is a protein responsible for a severe muscle disease Duchenne muscular dystrophy ( DMD ) . ^^^ Addressing the CNS function of dystrophin would make the advance on the interpretation of the CNS symptoms accompanying with DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Many studies , including investigations into gene replacement therapy , have been conducted in a search for a treatment for DMD , and the most promising treatment to date is rescue of mutant dystrophin mRNA by induction of exon skipping . ^^^ On the basis of results from the molecular analysis of dystrophin Kobe , we propose a treatment for DMD in which antisense oligonucleotides induce exon skipping to edit out of frame dystrophin mRNA into in frame , thereby converting severe DMD to a milder form . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Canine 10 linked muscular dystrophy ( CXMD ) , which was found in a colony of golden retriever , is caused by a mutation in the dystrophin gene and it is a useful model of Duchenne muscular dystrophy ( DMD ) . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is secondary to loss of function mutations in the dystrophin gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In myoblasts of a dystrophin negative muscle cell line established from the mdx mouse model of DMD but not in normal myoblasts , exposure to extracellular ATP triggered a strong increase in cytoplasmic Ca2+ concentrations . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Starting with our identification of dystrophin as the defective protein in Duchenne muscular dystrophy ( DMD ) , we have continued our work on normal dystrophin function and how it is altered in muscular dystrophy . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
METHODS : Muscles from dystrophin deficient ( mdx ) mice , a well characterized animal model for DMD , were injected with antisense constructs that restore the open reading frame in the Dmd gene . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a fatal muscle wasting disease that is characterized by muscle dystrophin deficiency . ^^^ We report that intravenous ( 4 ) infusion of an antisense oligonucleotide created an in frame dystrophin mRNA from an out of frame DMD mutation ( via exon skipping ) which led to muscle dystrophin expression . ^^^ A 10 year old DMD patient possessing an out of frame , exon 20 deletion of the dystrophin gene received a 0 . 5 mg / kg 4 infusion of an antisense 31 mer phosphorothioate oligonucleotide against the splicing enhancer sequence of exon 19 . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Based upon these encouraging results , a human clinical trial to deliver the human dystrophin gene to patients with DMD is being planned . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DMD is caused by mutations in the dystrophin gene many of which result in the absence of the large cytoskeletal protein dystrophin at the sarcolemma . ^^^ Over expression of utrophin , the autosomal paralogue of dystrophin , as a transgene in the mdx mouse ( the mouse model of DMD ) has demonstrated that utrophin can prevent the muscle pathology . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Irreversible connective tissue proliferation in muscle is a pathological hallmark of Duchenne muscular dystrophy ( DMD ) , a genetic degenerative muscle disease due to lack of the sarcolemmal protein dystrophin . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
DMD cultures showed significant gene expression changes , even before dystrophin is expressed . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
In conclusion , intramuscular allotransplantation of normal MPCs can induce the expression of donor derived dystrophin in skeletal muscles of patients with DMD , although this expression is restricted to the sites of MPC injection . . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a 10 linked myopathy in which deletions and point mutations in the dystrophin gene abolish dystrophin expression . ^^^ In an animal model of DMD , the mdx mouse , a point mutation in exon 23 of the dystrophin gene introduces a premature stop codon . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Dystrophin is the protein whose defect underlies Duchenne Muscular Dystrophy , DMD , a common ( 1 : 3500 male births ) and fatal condition in which muscle tissue deteriorates leading to death in the second or third decade of life . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Through antisense induced single , double , and multiexon skipping , we have previously demonstrated restoration of dystrophin expression in Duchenne muscular dystrophy ( DMD ) patient derived muscle cells in vitro . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
Duchenne muscular dystrophy ( DMD ) is a fatal 10 linked muscle wasting disease caused by mutations of the gene encoding the cytoskeletal protein dystrophin . ^^^ Therapeutic options for DMD are limited because the pathogenetic mechanism by which dystrophin deficiency produces the clinical phenotype remains obscure . ^^^ Recent reports of abnormal alpha adrenergic vasoregulation in the exercising muscles of DMD patients and in the mdx mouse , an animal model of DMD , prompted us to hypothesize that the dystrophin deficient smooth muscle contributes to the vascular and dystrophic phenotypes of DMD . ^^^
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q8WYC9	Pubmed	SVM Score :0.0
NA