Gene: DMD

Alternate names for this Gene: BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85

Gene Summary: This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xp21.2-p21.1

Description of this Gene: dystrophin

Type of Gene: protein-coding

rs6631478 in DMD gene and Ankle brachial pressure index (observable entity) PMID 31388106 2019 Variants Associated with the Ankle Brachial Index Differ by Hispanic/Latino Ethnic Group: a genome-wide association study in the Hispanic Community Health Study/Study of Latinos.

rs373286166 in DMD gene and Becker Muscular Dystrophy PMID 17259292 2007 Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

PMID 19937601 2009 Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

PMID 22223181 2012 Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

PMID 17854090 2008 Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.

PMID 27930565 2016 A case report with the peculiar concomitance of 2 different genetic syndromes.

PMID 19793655 2009 DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.

PMID 19206170 2009 DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

PMID 27708273 2017 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

PMID 23453023 2013 MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 28859693 2017 Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

rs1379871 in DMD gene and Body mass index PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs5927969 in DMD gene and Bronchopulmonary Dysplasia PMID 21836138 2011 Identification of SPOCK2 as a susceptibility gene for bronchopulmonary dysplasia.

rs104894787 in DMD gene and Dmd-Associated Dilated Cardiomyopathy PMID 21396098 2011 Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

PMID 19367636 2009 Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

PMID 25612904 2015 A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

PMID 18652600 2008 Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.

PMID 21525508 2011 How does type 1 diabetes develop?: the notion of homicide or β-cell suicide revisited.

PMID 15351422 2004 The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

PMID 1549596 1992 Point mutations in the dystrophin gene.

PMID 18583217 2008 Small mutations of the DMD gene in Taiwanese families.

PMID 8281150 1993 Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.

PMID 17145200 2007 Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.

PMID 19937601 2009 Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

PMID 19409785 2009 Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.

PMID 19783145 2009 Point mutations in Czech DMD/BMD patients and their phenotypic outcome.

PMID 7668256 1995 The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test.

PMID 10533061 1999 Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.

PMID 10320864 1998 Characterization of two nonsense mutations in the human dystrophin gene.

PMID 10909857 2000 Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.

PMID 19602481 2009 Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

PMID 17041906 2007 Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

PMID 10094565 1999 Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online.

PMID 17259292 2007 Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

PMID 20485447 2010 Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

PMID 9544849 1998 Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.

PMID 27593222 2017 Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.

PMID 21969337 2011 Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.

PMID 21515508 2011 A population-based study of dystrophin mutations in Canada.

PMID 19230662 2009 Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.

PMID 16770791 2006 Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

PMID 20098710 2010 Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.

PMID 19760747 2009 Exon skipping-mediated dystrophin reading frame restoration for small mutations.

PMID 23536893 2013 Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

PMID 24265581 2013 Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies.

PMID 7951253 1994 Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.

PMID 28318817 2017 Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China.

PMID 17952667 2007 Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.

PMID 22092019 2012 Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.

PMID 9298822 1997 Novel point mutations in the dystrophin gene.

PMID 24349052 2013 Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.

PMID 7611292 1995 Spectrum of small mutations in the dystrophin coding region.

PMID 19530190 2009 Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.

PMID 23756440 2014 Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study.

PMID 27750387 2017 Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.

PMID 25007885 2014 New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

PMID 27122458 2016 [Mutation screening of 433 families with Duchenne/Becker muscular dystrophy].

PMID 15643612 2005 Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.

PMID 25900853 2016 Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.

PMID 15723292 2005 Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 28859693 2017 Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

PMID 19074751 2009 Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

PMID 11524473 2001 Diagnosis of Duchenne dystrophy by enhanced detection of small mutations.

PMID 27515321 2016 Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26.

PMID 22223181 2012 Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

PMID 27930565 2016 A case report with the peculiar concomitance of 2 different genetic syndromes.

PMID 17854090 2008 Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.

PMID 19206170 2009 DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

PMID 27708273 2017 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

PMID 12632325 2003 Rapid direct sequence analysis of the dystrophin gene.

PMID 21399986 2011 Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.

PMID 19793655 2009 DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.

PMID 8840119 1996 Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts.

PMID 9143930 1997 Three novel point mutations in the dystrophin gene in DMD patients.

PMID 10196701 1999 Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.

PMID 14695533 2004 DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.

PMID 23453023 2013 MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

PMID 12354438 2002 Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy.

PMID 11710958 2001 Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

PMID 25972034 2015 DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

PMID 16834926 2006 A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.

PMID 19001018 2009 In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.

PMID 9067763 1997 Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis.

PMID 17253928 2006 Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.

PMID 19959795 2010 One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

PMID 11257468 2001 Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation.

PMID 17435279 2007 Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.

PMID 17880784 2007 [Detection of new mutations in the dystrophin gene by denaturing high-performance liquid chromatography].

PMID 14659407 2004 Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.

PMID 28100912 2017 Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.

PMID 29581631 2017 Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.

PMID 24292997 2014 Dystrophin levels and clinical severity in Becker muscular dystrophy patients.

PMID 11039581 2000 Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.

PMID 12754707 2003 Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.

PMID 17726484 2008 Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.

PMID 16049303 2005 Experience and strategy for the molecular testing of Duchenne muscular dystrophy.

PMID 9195228 1997 Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 16077730 2005 Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.

PMID 23276443 2012 Manifesting pediatric carrier of isolated dystrophinopathy with initial presentation of myalgia and persistent hyperCKemia.

PMID 28526893 2017 Do we need 3D tube current modulation information for accurate organ dosimetry in chest CT? Protocols dose comparisons.

PMID 12398835 2002 DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene.

PMID 12233050 2002 [Dystrophin gene analysis on 76 families with dystrophinopathy].

PMID 21972111 2011 Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

PMID 25636106 2015 [c.2381-3T>C mutation of DMD gene: a rare SNP without significant pathogenicity].

PMID 19835634 2009 Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.

PMID 10464635 1997 Dystrophin point mutation screening using a multiplexed protein truncation test.

PMID 27425820 2016 Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.

rs16990169 in DMD gene and Influenza due to Influenza A virus subtype H1N1 PMID 26379185 2015 No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity.

rs1010666282 in DMD gene and Muscular Dystrophy, Duchenne PMID 25244321 2014 Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.

PMID 10464635 1997 Dystrophin point mutation screening using a multiplexed protein truncation test.

PMID 20485447 2010 Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

PMID 21399986 2011 Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.

PMID 9760747 1998 Hansenula anomala as spoilage agent of cream-filled cakes.

PMID 21396098 2011 Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

PMID 25007885 2014 New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

PMID 16770791 2006 Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

PMID 27593222 2017 Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.

PMID 19937601 2009 Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

PMID 10196701 1999 Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 28859693 2017 Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

PMID 19760747 2009 Exon skipping-mediated dystrophin reading frame restoration for small mutations.

PMID 17726484 2008 Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.

PMID 17259292 2007 Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

PMID 25972034 2015 DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

PMID 19959795 2010 One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

PMID 17041906 2007 Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

PMID 21515508 2011 A population-based study of dystrophin mutations in Canada.

PMID 16566881 2006 Diagnostic strategy for the detection of dystrophin gene mutations in asian patients and carriers using immortalized cell lines.

PMID 16049303 2005 Experience and strategy for the molecular testing of Duchenne muscular dystrophy.

PMID 15351422 2004 The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

PMID 22223181 2012 Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

PMID 17854090 2008 Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.

PMID 27930565 2016 A case report with the peculiar concomitance of 2 different genetic syndromes.

PMID 19206170 2009 DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

PMID 27708273 2017 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

PMID 19793655 2009 DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.

PMID 23536893 2013 Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

PMID 21969337 2011 Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.

PMID 10909857 2000 Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.

PMID 23453023 2013 MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

PMID 26968818 2018 Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

PMID 18652600 2008 Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.

PMID 23756440 2014 Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study.

PMID 9067763 1997 Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis.

PMID 2136098 1990 Cannabis diagnosis of patients receiving treatment for cocaine dependence.

PMID 26911353 2016 Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

PMID 19823873 2010 Transposable elements in disease-associated cryptic exons.

PMID 14659407 2004 Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

rs73460075 in DMD gene and Temporomandibular Joint Disorders PMID 28081371 2017 GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos.