Myophosphorylase deficiency (McArdle's disease) in two interrelated families.
D000293:Adolescent; D000328:Adult; D000410:Alanine Transaminase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D003402:Creatine Kinase / Q000097:blood; D004569:Electroencephalography; D004576:Electromyography; D005260:Female; D005634:Fructose-Bisphosphate Aldolase / Q000097:blood; D005808:Genes, Recessive; D005947:Glucose / Q000627:therapeutic use; D005964:Glucosyltransferases; D006008:Glycogen Storage Disease / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000097:blood; D007773:Lactates / Q000097:blood; D008297:Male; D009132:Muscles / Q000201:enzymology*; D009135:Muscular Diseases / Q000188:drug therapy / Q000235:genetics*; D010375:Pedigree; D006005:Phosphorylases / Q000097:blood; D012737:Sex Factors
D007773:Lactates; D007770:L-Lactate Dehydrogenase; D005964:Glucosyltransferases; D006005:Phosphorylases; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D003402:Creatine Kinase; D005634:Fructose-Bisphosphate Aldolase; D005947:Glucose