Congenital myopathy due to phosphorylase deficiency

A 4-year-old boy had delayed psychomotor development, proximal weakness, increased serum CK, and myopathic EMG. Muscle biopsy was normal, but histochemical stain for phosphorylase showed no reaction. The enzyme defect was confirmed biochemically and in studies of anaerobic glycolysis in vitro. Glyco...

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Bibliographic Details
Published inNeurology Vol. 33; no. 10; p. 1383
Main Authors Cornelio, F, Bresolin, N, DiMauro, S, Mora, M, Balestrini, M R
Format Journal Article
LanguageEnglish
Published United States 01.10.1983
Subjects
Child, Preschool
Glycogen Storage Disease - enzymology
Glycogen Storage Disease Type V - enzymology
Humans
Male
Phosphorylases - deficiency
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Summary:A 4-year-old boy had delayed psychomotor development, proximal weakness, increased serum CK, and myopathic EMG. Muscle biopsy was normal, but histochemical stain for phosphorylase showed no reaction. The enzyme defect was confirmed biochemically and in studies of anaerobic glycolysis in vitro. Glycogen concentration was twice normal. Atypical presentations of myophosphorylase deficiency have included progressive weakness of late onset and fatal infantile myopathy. This patient represents another example of clinical heterogeneity.
ISSN:0028-3878
DOI:10.1212/wnl.33.10.1383