Metabolic myopathies

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

Research output: Contribution to journalArticle

32 Citations (Scopus)

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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