Metabolic myopathies

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

Research output: Contribution to journalArticle

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

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Cytochrome-c Oxidase Deficiency
Phosphoglycerate Mutase
Mitochondrial Myopathies
Glycogen Storage Disease Type II
Phosphoglycerate Kinase
Glycogen Storage Disease
Phosphofructokinases
Phosphorylases
Muscular Diseases
L-Lactate Dehydrogenase
Isoenzymes
Molecular Biology

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

DiMauro, S., Miranda, A. F., Sakoda, S., Schon, E. A., Servidei, S., Shanske, S., & Zeviani, M. (1986). Metabolic myopathies. American Journal of Medical Genetics, 25(4), 635-651. https://doi.org/10.1002/ajmg.1320250406

Metabolic myopathies. / DiMauro, S.; Miranda, A. F.; Sakoda, S.; Schon, E. A.; Servidei, S.; Shanske, S.; Zeviani, M.

In: American Journal of Medical Genetics, Vol. 25, No. 4, 1986, p. 635-651.

Research output: Contribution to journalArticle

DiMauro, S, Miranda, AF, Sakoda, S, Schon, EA, Servidei, S, Shanske, S & Zeviani, M 1986, 'Metabolic myopathies', American Journal of Medical Genetics, vol. 25, no. 4, pp. 635-651. https://doi.org/10.1002/ajmg.1320250406
DiMauro S, Miranda AF, Sakoda S, Schon EA, Servidei S, Shanske S et al. Metabolic myopathies. American Journal of Medical Genetics. 1986;25(4):635-651. https://doi.org/10.1002/ajmg.1320250406
DiMauro, S. ; Miranda, A. F. ; Sakoda, S. ; Schon, E. A. ; Servidei, S. ; Shanske, S. ; Zeviani, M. / Metabolic myopathies. In: American Journal of Medical Genetics. 1986 ; Vol. 25, No. 4. pp. 635-651.
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