Myophosphorylase Deficiency (McArdle's Disease): Report of a Family

M. Zafar Mahmud, R. Rodney Howell, Roger E. Stevenson, John Gilroy

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

The clinical and biochemical findings are presented of two brothers suffering from McArdle's disease (myophosphorylase deficiency). Tissue enzyme estimations and lactate levels were done in affected and non affected members of the family. Affected members showed absence of phosphorylase enzyme by histochemical and quantitative estimation. No quantitative abnormalities were found in other enzyme systems of glycolytic pathways in the family investigated. Various other aspects of clinical features, biochemical abnormalities and inheritance are discussed.

Original languageEnglish (US)
Pages (from-to)175-179
Number of pages5
JournalCanadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
Volume3
Issue number3
DOIs
StatePublished - Aug 1976
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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