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

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

doi:10.1017/S0317167100025701

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

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

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	175-179
Number of pages	5
Journal	Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
Volume	3
Issue number	3
DOIs	https://doi.org/10.1017/S0317167100025701
State	Published - Aug 1976
Externally published	Yes

ASJC Scopus subject areas

Neurology
Clinical Neurology

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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.",

author = "Mahmud, {M. Zafar} and Howell, {R. Rodney} and Stevenson, {Roger E.} and John Gilroy",

year = "1976",

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AU - Mahmud, M. Zafar

AU - Howell, R. Rodney

AU - Stevenson, Roger E.

AU - Gilroy, John

PY - 1976/8

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AB - 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.

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