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: C0009917
Disease: Contracture
Contracture
0.050 Biomarker disease BEFREE DMD patients die in their second or third decade due to either respiratory failure or cardiomyopathy, as the absence of dystrophin leads to myofiber membrane fragility and necrosis, eventually resulting in muscle atrophy and contractures. 29414414 2018
CUI: C0009917
Disease: Contracture
Contracture
0.050 Biomarker disease BEFREE The absence of dystrophin leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and contractures. 28526070 2017
CUI: C0009917
Disease: Contracture
Contracture
0.050 Biomarker disease BEFREE In contrast, dystrophin-deficient myocytes display poor passive compliance and are susceptible to terminal contracture following mild passive extensions. 21665956 2011
CUI: C0009917
Disease: Contracture
Contracture
0.050 GeneticVariation disease BEFREE Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures. 12868501 2003
CUI: C0009917
Disease: Contracture
Contracture
0.050 Biomarker disease BEFREE Malignant hyperthermia in a patient with Becker muscular dystrophy: dystrophin analysis and caffeine contracture study. 7719142 1995