Metabolic myopathies.

TitleMetabolic myopathies.
Publication TypeJournal Article
Year of Publication1986
AuthorsDiMauro, S, Miranda, AF, Sakoda, S, Schon, EA, Servidei, S, Shanske, S, Zeviani, M
JournalAm J Med Genet
Volume25
Issue4
Pagination635-51
Date Published1986 Dec
ISSN0148-7299
KeywordsBisphosphoglycerate Mutase, Cytochrome-c Oxidase Deficiency, Electron Transport, Glucan 1,4-alpha-Glucosidase, Glucosidases, Glycogen Storage Disease, Glycogen Storage Disease Type V, Glycolysis, Humans, Mitochondria, Muscle, Muscular Diseases, Phosphofructokinase-1, Phosphorylases, Polymorphism, Genetic, Polymorphism, Restriction Fragment Length
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.

DOI10.1002/ajmg.1320250406
Alternate JournalAm. J. Med. Genet.
Citation Key10.1002/ajmg.1320250406
PubMed ID2878616
Grant ListNS117766 / NS / NINDS NIH HHS / United States