Abstract
Approximately 100 patients suffering from disturbed energy metabolism of the skeletal muscle mitochondria have been reported in the literature. A malfunction of the respiratory chain was found in about two-thirds of these patients. NADH dehydrogenase and cytochrome c oxidase deficiencies have been most frequently reported, but the application of improved enzymatic techniques reveals that, in many patients, the defects in the respiratory chain are not restricted to a single enzyme deficiency. In this study the biochemical findings in six patients with representative defects in the respiratory chain of their skeletal muscle mitochondria are presented. Attention is focussed on the occurrence of the multiple defects.
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© 1989 SSIEM and Kluwer Academic Publishers
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Ruitenbeek, W., Trijbels, J.M.F., Fischer, J.C., Sengers, R.C.A., Janssen, A.J.M., Kerkhof, C.M.C. (1989). Mitochondrial Myopathies: Multiple Enzyme Defects in the Respiratory Chain. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_49
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DOI: https://doi.org/10.1007/978-94-009-1069-0_49
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