title: Adult muscle phosphorylase "b" kinase deficiency.
abstract: A 35-year-old man had severe exercise intolerance and cramps. Venous blood lactate did not rise after ischemic exercise, and electromyographically silent contracture of hand muscles appeared. Histochemistry and electronmicroscopy of a muscle biopsy revealed subsarcolemmal and intermyofibrillar accumulation of glycogen. Biochemical studies showed moderately increased amount of glycogen. Total phosphorylase activity was normal, but the active form "a" was 27% of normal. Phosphorylase kinase activity was 12% of the normal value and was normal in leukocytes and erythrocytes.
authors.forename: J M
authors.initials: JM
authors.lastname: Abarbanel
authors.forename: N
authors.initials: N
authors.lastname: Bashan
authors.forename: R
authors.initials: R
authors.lastname: Potashnik
authors.forename: A
authors.initials: A
authors.lastname: Osimani
authors.forename: S W
authors.initials: SW
authors.lastname: Moses
authors.forename: Y
authors.initials: Y
authors.lastname: Herishanu
mesh_terms: D000328:Adult; D006801:Humans; D008297:Male; D009120:Muscle Cramp / Q000201:enzymology; D009135:Muscular Diseases / Q000201:enzymology*; D010763:Phosphorylase b / Q000172:deficiency*; D006005:Phosphorylases / Q000172:deficiency*; D005082:Physical Exertion
chemical_list: D010763:Phosphorylase b; D006005:Phosphorylases