McArdle's disease: a review.
The clinical features of McArdle's disease (inherited deficiency of skeletal muscle phosphorylase) and the histological and biochemical changes are described. Their possible causes are discussed in the light of recent knowledge of the biochemistry of muscular contraction. Diagnostic tests are detailed. Attention is drawn to the possibility that the disease may be due to primary defect of motoneurons.
D000293:Adolescent; D000328:Adult; D002118:Calcium / Q000032:analysis; D004576:Electromyography; D004789:Enzyme Activation; D005260:Female; D005964:Glucosyltransferases; D006008:Glycogen Storage Disease / Q000175:diagnosis / Q000201:enzymology / Q000473:pathology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009119:Muscle Contraction; D009135:Muscular Diseases / Q000175:diagnosis / Q000201:enzymology / Q000473:pathology; D006005:Phosphorylases; D011379:Prognosis; D012519:Sarcoplasmic Reticulum / Q000032:analysis; D013577:Syndrome
D005964:Glucosyltransferases; D006005:Phosphorylases; D002118:Calcium