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: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) is a genetic disorder in which the absence of dystrophin leads to skeletal muscle wasting and heart failure. 30347179 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease BEFREE Chronic stress induced by dystrophin deficiency leads to heart failure that is tightly associated with regional structural changes indexed by increased myofilament lattice spacing, reduced phosphorylation of regulatory proteins and altered myofilament contractile properties in GRMD dogs. 29275006 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease BEFREE The most widely used animal model of DMD is the dystrophin-deficient mdx mouse; however, these mice exhibit a mild dystrophic phenotype with heart failure only late in life. 28623080 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease BEFREE Dystrophin loss has been related to end-stage cardiac myopathies and proposed as a common route for myocardial dysfunction and progression to advanced heart failure. 27730362 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease BEFREE This study was undertaken to evaluate dystrophin and calpain-1 in the transition from compensated cardiac hypertrophy to HF. 29267303 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease BEFREE The hereditary cardiomyopathic hamster of the UM-X7.1 strain is a particular experimental model of heart failure (HF) leading to early death in muscular dystrophy (dystrophin deficiency and sarcoglycan mutation) and heart disease (δ-sarcoglycan deficiency and dystrophin mutation) in human DMD. 28727929 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease BEFREE Dystrophin (DMD), a putative target gene of miR-340 which is eccentric hypertrophy-susceptible, was decreased in this HF model upon Western blotting and immunohistochemistry tests. 26084457 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) is caused by an X-linked mutation that leads to the absence of dystrophin, resulting in life-threatening arrhythmogenesis and associated heart failure. 26311238 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 GeneticVariation disease BEFREE We describe a previously healthy 16-year-old boy who presented with palpitations progressing to heart failure who was ultimately found to have a novel duplication of exons 13-16 in the dystrophin gene resulting in diagnosis of X-linked dilated cardiomyopathy. 26294044 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease BEFREE Clinically, patients with DMD loose ambulance around the age of 12, need ventilatory support at their late teens and die in their third or fourth decade due to pulmonary or cardiac failure.BMD has a more variable disease course. 23667215 2014
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 AlteredExpression disease BEFREE Duchenne muscular dystrophy (DMD) is an incurable, X-linked progressive muscle degenerative disorder that results from the absence of dystrophin protein and leads to premature death in affected individuals due to respiratory and/or cardiac failure typically by age of 30. 23984357 2013
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease BEFREE In patients with Duchenne Muscular Dystrophy (DMD), the absent or diminished dystrophin leads to progressive skeletal muscle and heart failure. 20492678 2010
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease BEFREE The aim of this article was to assess our recent paradigm that disruption of myocardial Dys is a final common pathway to advanced HF, irrespective of its hereditary or acquired origin, but not intended to provide a comprehensive overview of the various factors that may be involved in the course of HF in different clinical settings. 15963350 2005
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease BEFREE Given that the enteroviral protease 2A cleaves mouse and human dystrophin, NO may be protective in human heart failure with an underlying enteroviral pathogenesis through inhibition of dystrophin proteolysis. 11056105 2000
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 GeneticVariation disease BEFREE Coupled with previous data showing that dystrophin mutations also cause dilated cardiomyopathy, these results raise the possibility that defective transmission of force in cardiac myocytes is a mechanism underlying heart failure. 9563954 1998
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 GeneticVariation disease BEFREE No definite relation between the deleted locus of the dystrophin gene and cardiac failure was found. 8800037 1996
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.200 Biomarker disease HPO