Metabolic myopathies

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

Research output: Contribution to journalArticlepeer-review

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: 1) clinical heterogeneity, 2) biochemical heterogeneity, 3) evidence for tissue-specific and developmentally controlled isozymes, and 4) molecular genetic studies.

Original languageEnglish
Pages (from-to)635-651
Number of pages17
JournalAmerican Journal of Medical Genetics
Volume25
Issue number4
DOIs
Publication statusPublished - 1986

ASJC Scopus subject areas

  • Genetics(clinical)

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