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 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 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 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 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 Biomarker group BEFREE Previously, treatment with β-blockers showed beneficial effects on the development of cardiomyopathy in dystrophin-deficient (mdx) mice, but not in δ-sarcoglycan-deficient (Sgcd-/-) mice. 30782477 2019
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 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 Dystrophin deficiency also gives rise to considerable complications in the heart, including cardiomyopathy development and arrhythmias. 30360568 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE NEW & NOTEWORTHY This study examined the effects of phospholamban ablation on the pathophysiology of cardiomyopathy in dystrophin-deficient mice. 30118340 2018
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 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 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 Biomarker group BEFREE Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine. 30235804 2018
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 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 We and others have shown that mosaic dystrophin expression at the wild-type level, depending on the percentage of dystrophin positive cardiomyocytes, can either delay the onset of or fully prevent cardiomyopathy in dystrophin-null mdx mice. 27908661 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 Dystrophin-Deficient Cardiomyopathy. 27230049 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group BEFREE Nicorandil, a Nitric Oxide Donor and ATP-Sensitive Potassium Channel Opener, Protects Against Dystrophin-Deficient Cardiomyopathy. 26940570 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 AlteredExpression group BEFREE This work demonstrates that high levels of cardiac dystrophin restored by Pip peptide-AOs prevents further deterioration of cardiomyopathy and pathology following exercise in dystrophic DMD mice. 25758104 2015
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 The loss of dystrophin or its associated proteins results in the development of muscle wasting frequently associated with cardiomyopathy. 24645914 2014
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 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 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