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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE Mutation of dystrophin gene and cardiomyopathy. 7981594 1994
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE Young males presenting with apparent isolated cardiomyopathy or acute myocarditis may harbor dystrophin mutations without overt skeletal muscle pathology. 20206892 2010
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE Contrary to previous reports, which indicated the involvement of 5'-end mutations in cardiomyopathies as a result of dystrophin gene alterations, this study shows that despite the apparent concentration of deletions in two regions (5'-end and exons 47 through 49), no general conclusions can be drawn regarding the involvement of specific gene mutations in the development of cardiomyopathy. 8989125 1996
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE X-chromosome inactivation was shown to be the basis of cardiomyopathy in women with a single mutated dystrophin allele. 7787263 1995
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE Mutations of the dystrophin gene leading to a complete loss of the protein cause Duchenne muscular dystrophy (DMD), frequently associated with severe cardiomyopathy. 22248393 2012
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE Loss-of-function mutations in the genes encoding dystrophin and the associated membrane proteins, the sarcoglycans, produce muscular dystrophy and cardiomyopathy. 21138941 2011
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE We report the first case of a DNA segment deletion encompassing promoters M and P of the human dystrophin gene, which caused a very severe muscle phenotype without cardiomyopathy, in a 13-year-old boy. 12031623 2002
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE We identified a novel dystrophin mutation (p.1667 del Ala), resulting in BMD-associated cardiomyopathy that demonstrated the pathological features of significant fibrofatty replacement in the sub-epicardial layer of the ventricle; further, the high-throughput sequencing is helpful for making an early diagnosis of BMD. 30103083 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. 29127875 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE A 5' dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy. 9441825 1997
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is associated with severe cardiac complications including cardiomyopathy and cardiac arrhythmias. 21677768 2011
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE Females with dystrophin mutations are at risk for cardiomyopathy, but are usually asymptomatic during childhood. 19449433 2009
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group 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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE Dystrophin-deficient cardiomyopathy is becoming the dominant cause of death in patients with Duchenne muscular dystrophy (DMD), but its developmental process remains elusive. 31611157 2020
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE Left ventricular thrombosis and systemic emboli have been demonstrated to complicate cardiomyopathy in Duchenne and Becker muscular dystrophy (DMD, BMD). 10235436 1999
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE All dystrophin-associated proteins are decreased in abundance in the cardiomyopathic hamster heart, perhaps explaining why the cardiomyopathy is more severe than the myopathy. 8505286 1993
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE Dystrophin deficiency leads to ambulation loss and cardiomyopathy. 30518686 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE Dystrophin-deficient Duchenne cardiomyopathy is associated with Duchenne muscular dystrophy (DMD), the most common lethal muscular dystrophy. 22318092 2012
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE Although this minigene fully normalized skeletal muscle force, it only partially corrected electrocardiogram and heart hemodynamics in dystrophin-null mdx mice that had moderate cardiomyopathy. 29433343 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE Proteomic profiling of the dystrophin-deficient mdx phenocopy of dystrophinopathy-associated cardiomyopathy. 24772416 2014
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE Thus current research efforts into the elucidation of the molecular mechanisms underlying these genetic diseases are not only directed towards studying skeletal muscle necrosis but also investigate abnormalities of heart and brain dystrophin-glycoprotein complexes in cardiomyopathy and brain deficiencies associated with muscular dystrophy. 9850730 1998
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE In conclusion, low glutathione resource hastens the onset of cardiomyopathy linked to a defect in dystrophin in mdx mice. 20696779 2010
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group GENOMICS_ENGLAND
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE These findings indicate that AAV-mediated cardiac transduction with microdystrophin might be a promising therapeutic strategy for the treatment of dystrophin-deficient cardiomyopathy. 21451578 2011