A female case of glycogen storage myopathy due to phosphorylase kinase deficiency.
D005260:Female; D006008:Glycogen Storage Disease / Q000209:etiology*; D006012:Glycogen Storage Disease Type V / Q000209:etiology*; D006801:Humans; D007223:Infant; D009030:Mosaicism; D009132:Muscles / Q000201:enzymology; D009135:Muscular Diseases / Q000201:enzymology*; D010764:Phosphorylase Kinase / Q000172:deficiency*
D010764:Phosphorylase Kinase