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

Published online by Cambridge University Press:  18 September 2015

M. Zafar Mahmud ,
R. Rodney Howell ,
Roger E. Stevenson  and
John Gilroy
M. Zafar Mahmud
Affiliation:
Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan
R. Rodney Howell
Affiliation:
Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan
Roger E. Stevenson
Affiliation:
Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan
John Gilroy*
Affiliation:
Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan
*
Dept. of Neurology, Wayne State University School of Medicine, 3900 John R, Detroit, Michigan 48201 U.S.A.
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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.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 3 , Issue 3 , August 1976 , pp. 175 - 179
Copyright
Copyright © Canadian Neurological Sciences Federation 1976

References

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