DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE X-linked dilated cardiomyopathy is a pure cardiac dystrophinopathy phenotype mainly caused by DMD mutations that present a specific transcription effect in cardiac tissue. 22092019 2012
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE X-linked dilated cardiomyopathy and the dystrophin gene. 10407857 1999
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease CLINVAR Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. 19602481 2009
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE Dystrophin localizes at the X chromosome, whose mutations might result in Duchenne muscular dystrophy, Becker muscular dystrophy and X-linked dilated cardiomyopathy. 18562127 2008
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease CLINVAR MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. 23453023 2013
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease CLINVAR A case report with the peculiar concomitance of 2 different genetic syndromes. 27930565 2016
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease CLINVAR Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples. 25900853 2016
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE The only known disease gene is the dystrophin gene causing X-linked dilated cardiomyopathy, but other cytoskeletal proteins, such as adhalin, could be involved. 9891591 1998
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease CLINVAR Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. 22223181 2012
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease UNIPROT Consistently, XLDCM patients have decreased levels of dystrophin in cardiac muscle. 25340340 2014
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. 10832829 2000
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia. 29901616 2018
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. 15094399 2004
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC). 19937601 2009
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE X-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a decade later in one of the original two families. 17899313 2007
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease UNIPROT Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. 12359139 2003
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE We analyzed 78 BMD and X-linked dilated cardiomyopathy patients with common deletion mutations predicted to alter the dystrophin protein and correlated their mutations to cardiomyopathy age of onset. 20031633 2009
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. 7825571 1995
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE X linked dilated cardiomyopathy is a familial disease that is allelic to Duchenne and Becker muscular dystrophies and caused by mutations in the dystrophin gene. 15253946 2004
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease CLINVAR Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 23536893 2013
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. 8789442 1996
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE Molecular genetic studies have delineated the gene for BTHS, which maps to distal Xq28, from the gene for so called X linked dilated cardiomyopathy (XLCM), a teenage onset dilated cardiomyopathy, recently mapped to the 5' portion of the dystrophin locus at Xp21. 7616547 1995
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease CLINVAR Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. 12754707 2003
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease CLINVAR Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. 17259292 2007
Dmd-Associated Dilated Cardiomyopathy
0.800 GeneticVariation disease BEFREE A functional role for these sequences was suggested by a pure intronic DMD deletion causing X-linked dilated cardiomyopathy through the prevalent cardiac incorporation of the aberrant pseudo-exon, marked as Alu-exon, into the dystrophin transcript. 20486769 2010