Myophosphorylase deficiency: The course of an unusual congenital myopathy

J. M. Abarbanel, R. Potashnik, S. Frisher, S. W. Moses, A. Osimani, Y. Herishanu

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


A 59-year-old man had proximal weakness and wasting that started in early childhood. EMG was “myopathic,” serum CK activity was increased, and muscle biopsy showed accumulations of glycogen. Biochemical studies revealed elevated glycogen concentration and absence of myophosphorylase activity. This unusual presentation of a long-standing, painless, and quite static weakness due to myophosphorylase deficiency represents another example of clinical heterogeneity.

Original languageEnglish
Pages (from-to)316-318
Number of pages3
Issue number2
StatePublished - 1 Jan 1987
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology


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