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Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
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Metabolic myopathies.

S DiMauro, A F Miranda, S Sakoda, E A Schon, S Servidei, S Shanske, M Zeviani
American Journal of Medical Genetics 1986 December
Six glycogen storage diseases (resulting from deficiencies of acid maltase, phosphorylase, phosphofructokinase, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase) and one mitochondrial myopathy (cytochrome c oxidase deficiency) are reviewed to illustrate: clinical heterogeneity, biochemical heterogeneity, evidence for tissue-specific and developmentally controlled isozymes, and molecular genetic studies.

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