Pubmed abstracts for Protein-Protein Interaction search result :

Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 . . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	Pubmed	SVM Score :0.0
The results of the DNA analysis exclude DMD , BMD and EMD . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	Pubmed	SVM Score :0.0
DMD and BMD in the same family due to distinct mutations . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	Pubmed	SVM Score :0.0
Haplotypes of the unaffected and affected persons of ten DMD / BMD Mexican families were determined . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	Pubmed	SVM Score :0.0
The study involved 32 patients with progressive muscular dystrophy ( 28 DMD and four BMD ) . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . . ^^^
Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
Splicing mutations in DMD / BMD detected by RT PCR / PTT : detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 ) . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 ) . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 . . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 . . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	Pubmed	SVM Score :0.0
These mutations result in the Duchenne and Becker muscular dystrophies ( DMD and BMD ) . ^^^
Interacting proteins: Q16484 and Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	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 Q7KYP7	Pubmed	SVM Score :0.0
A rare MspI RFLP of the DMD probe p 20 ( DXS 269 ) . ^^^
Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
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Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
NA
Interacting proteins: Q16484 and Q7KYP7	Pubmed	SVM Score :0.0
NA