Congenital myopathy due to phosphorylase deficiency

Ferdinando Cornelio, Nereo Bresolin, Salvatore Dimauro, Marina Mora, Maria Rosa Balestrini

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1383-1385
Number of pages3
JournalNeurology
Volume33
Issue number10
Publication statusPublished - 1983

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

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