DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		0.020 GeneticVariation disease BEFREE Analysis of skeletal muscle tissue from all three patients revealed severe disruption of the extrasarcomeric intermediate filament cytoskeleton, protein aggregates positive for desmin, syncoilin, and synemin, degenerative myofibrillar changes, and mitochondrial abnormalities comprising respiratory chain dysfunction and an altered organelle distribution and amount.Our study demonstrates that EBS-MD causing PLEC mutations universally result in a desmin protein aggregate myopathy phenotype despite marked differences in individual plectin protein expression patterns. 27121971 2016
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		0.020 GeneticVariation disease BEFREE Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. 12071635 2002