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. 1986 Dec;25(4):635-51.
doi: 10.1002/ajmg.1320250406.

Metabolic myopathies

S DiMauro, A F Miranda, S Sakoda, E A Schon, S Servidei, S Shanske, M Zeviani

Metabolic myopathies

S DiMauro et al. Am J Med Genet. 1986 Dec.

Abstract

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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