Adult muscle phosphorylase 'b' kinase deficiency

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

    Research output: Contribution to journalArticlepeer-review

    52 Scopus citations

    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 muscle 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. Phosphorylation kinase activity was 12% of the normal value and was normal in leukocytes and erythrocytes.

    Original languageEnglish
    Pages (from-to)560-562
    Number of pages3
    JournalNeurology
    Volume36
    Issue number4
    DOIs
    StatePublished - 1 Jan 1986

    ASJC Scopus subject areas

    • Clinical Neurology

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