Article
McArdle's disease: molecular genetics and metabolic consequences of the phenotype.
Muscle & nerve. Supplement - 1 Jan 1995
Beynon R J, Bartram C, Hopkins P, Toescu V, Gibson H, Phoenix J, Edwards R H
Abstract excerpt
McArdle's disease is defined as a lack of functional muscle glycogen phosphorylase. Analysis of the myophosphorylase gene has demonstrated substantial heterogeneity in the mutations that cause the disease, but in almost all individuals, the molecular phenotype is the absence of the protein in skeletal muscle. Muscle glycogen phosphorylase is a major repository of vitamin B6 in the body, accounting for at least...
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