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 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 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 Lack of dystrophin also results to cardiomyopathy, which raises significantly the stroke risk in DMD-patients. 29552091 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Therapeutic group CTD_human Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy. 20675662 2010
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group CTD_human Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy. 20675662 2010
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE In the current preclinical study, we demonstrate the therapeutic potential of sarcospan (SSPN) overexpression to alleviate cardiomyopathy associated with Duchenne muscular dystrophy (DMD) utilizing dystrophin-deficient mdx mice with utrophin haploinsufficiency that more accurately represent the severe disease course of human DMD. 31039133 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 AlteredExpression group BEFREE In conclusion, this study demonstrated that allogeneic WT-MPC-Exo transplantation transiently restored dystrophin gene expression and improved cardiac function in MDX mice, suggesting that allogenic exosomal delivery may serve as an alternative treatment for cardiomyopathy of DMD. 30155598 2018
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 AlteredExpression group BEFREE Improving skeletal muscle function without restoring dystrophin expression in cardiac tissue may exacerbate cardiomyopathy due to increased voluntary activity. 30972156 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE However, 2.5-7.8% of them may present muscle symptoms and cardiomyopathy, attributed to a reduced production of dystrophin, probably because of skewed patterns of X-chromosome inactivation (XCI). 23110537 2013
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE Heart failure invariably affects patients with various forms of Muscular Dystrophy (MD), but the onset and molecular sequelae of altered structure and function resulting from full-length dystrophin (Dp427) deficiency in MD heart tissue are poorly understood.To better understand the role of dystrophin in cardiomyocyte development and the earliest phase of DMD cardiomyopathy, we studied human cardiomyocytes differentiated from induced pluripotent stem cells (hiPSC-CMs) obtained from the urine of a Deuchenne Muscular Dystrophy (DMD) patient. 31049579 2020
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 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 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 Biomarker group BEFREE Duchenne Muscular Dystrophy (DMD) cardiomyopathy is a progressive lethal disease caused by the lack of the dystrophin protein in the heart. 28623080 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE Dual Therapy Deflazacort/Doxycyclyne Is Better Than Deflazacort Monotherapy to Alleviate Cardiomyopathy in Dystrophin-Deficient mdx Mice. 28793824 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE Distinct pathophysiological mechanisms of cardiomyopathy in hearts lacking dystrophin or the sarcoglycan complex. 21665956 2011
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 Biomarker group CTD_human Combined deficiency of dystrophin and beta1 integrin in the cardiac myocyte causes myocardial dysfunction, fibrosis and calcification. 18340010 2008
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Therapeutic group CTD_human Combined deficiency of dystrophin and beta1 integrin in the cardiac myocyte causes myocardial dysfunction, fibrosis and calcification. 18340010 2008
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE Because genetic analysis cannot determine the correct diagnosis in 35% of DMD/BMD cases, we recommend routine examination of immunostaining patterns of dystrophin in endomyocardial biopsy specimens in patients with cardiomyopathy suspected to be the result of BMD. 7900621 1995
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 Although mdx mice are deficient in dystrophin, they only develop mild indicators of cardiomyopathy before 1year-of-age, making therapeutic investigations using this model lengthy. 22749475 2012
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 GeneticVariation group BEFREE A 5' dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy. 9441825 1997