The constellation of adult acid maltase deficiency: clinical, electrophysiologic, and morphologic features.
This report outlines the clinical, electrophysiologic, and morphologic findings in seven patients with adult acid maltase deficiency. The diagnosis was confirmed biochemically in four of these individuals. Adult acid maltase deficiency must be considered whenever clinical diagnoses of polymyositis, especially the chronic form, and limb-girdle muscular dystrophy are being entertained.
D000328:Adult; D000368:Aged; D004576:Electromyography; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase; D006008:Glycogen Storage Disease / Q000473:pathology* / Q000503:physiopathology; D006009:Glycogen Storage Disease Type II / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000201:enzymology / Q000473:pathology*; D009220:Myositis / Q000201:enzymology / Q000473:pathology*; D000520:alpha-Glucosidases
D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase