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  • Title: Metabolic myopathies.
    Author: DiMauro S, Miranda AF, Sakoda S, Schon EA, Servidei S, Shanske S, Zeviani M.
    Journal: Am J Med Genet; 1986 Dec; 25(4):635-51. PubMed ID: 2878616.
    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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