Abstract
Metabolic myopathies are a group of genetic disorders specifically affecting glucose/glycogen, lipid, and mitochondrial metabolism. The main metabolic myopathies that are evaluated in this article are the mitochondrial myopathies, fatty acid oxidation defects, and glycogen storage disease. This article focuses on the usefulness of exercise in the evaluation of genetic metabolic myopathies.
Copyright © 2012 Elsevier Inc. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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3-Hydroxyacyl CoA Dehydrogenases / metabolism*
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Acetyl-CoA C-Acyltransferase / metabolism*
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Carbon-Carbon Double Bond Isomerases / metabolism*
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Enoyl-CoA Hydratase / metabolism*
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Exercise Test / methods*
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Exercise Tolerance
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Glycogen Storage Disease / metabolism
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Glycogen Storage Disease / physiopathology*
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Humans
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Mitochondrial Myopathies / metabolism
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Mitochondrial Myopathies / physiopathology*
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Muscle Contraction
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / physiopathology
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Racemases and Epimerases / metabolism*
Substances
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fatty acid oxidation complex
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3-Hydroxyacyl CoA Dehydrogenases
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Acetyl-CoA C-Acyltransferase
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Enoyl-CoA Hydratase
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Racemases and Epimerases
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Carbon-Carbon Double Bond Isomerases