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Defects of fatty acid oxidation in skeletal muscle

  • Section III: Mitochondrial Pathology
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Fatty acids are important substrates for resting and exercising skeletal muscle. Defects of fatty acid oxidation result in muscle pain and weakness, and there is often lipid accumulation in muscle fibres. Only a few of the several possible enzyme defects have been found and some of these have responded to therapy. Some techniques for the investigation of fatty acid oxidation are outlined.

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Turnbull, D.M., Bartlett, K., Watmough, N.J. et al. Defects of fatty acid oxidation in skeletal muscle. J Inherit Metab Dis 10 (Suppl 1), 105–112 (1987). https://doi.org/10.1007/BF01812851

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