Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270984
Disease: Metabolic myopathy
Metabolic myopathy
0.010 GeneticVariation group BEFREE McArdle disease is a metabolic myopathy due to molecular defects in the myophosphorylase gene (PYGM), usually diagnosed in muscle biopsy. 17221871 2007