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. 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.
AuthorsF Cornelio, N Bresolin, S DiMauro, M Mora, M R Balestrini
JournalNeurology (Neurology) Vol. 33 Issue 10 Pg. 1383-5 (Oct 1983) ISSN: 0028-3878 [Print] United States
PMID6577313 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Phosphorylases
  • Child, Preschool
  • Glycogen Storage Disease (enzymology)
  • Glycogen Storage Disease Type V (enzymology)
  • Humans
  • Male
  • Phosphorylases (deficiency)

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