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Microscopic examination shows accumulations of mitochondria at the fibre periphery (ragged red fibres) and in some cases mitochondrial paracrystalline inclusions. The spectrum of different mitochondrial defects so far described is reviewed and data from cases investigated in this laboratory are described. The first case was a 17\u2010year\u2010old boy with a multisystem disorder whose muscle mitochondria showed low respiratory activity with all substrates, which doubled in the presence of uncouples Further investigation showed that the mitochondrial ATPase activity was only 6 % of normal. The next cases were a mother and daughter who showed a typical lipid storage myopathy. The latter was treated successfully with oral carnitine but the myopathy persisted. Mitochondrial investigations indicated a low respiratory activity with NAD\u2010linked substrates but normal activity with succinate and ascorbate + TMPD. A defect in the NADH\u2010CoQ reductase section of the respiratory chain was pinpointed possibly at an iron\u2010sulphur centre. The fourth and fifth cases were two sisters who exhibited no lipid storage myopathy but whose mitochondrial activity was low with NAD\u2010linked substrates but normal with succinate. Again a defect in the NADH\u2010CoQ reductase (complex I) of the respiratory chain was determined. They were also investigated using<jats:sup>31<\/jats:sup>P\u2010NMR. It was found after exercise that their muscle creatine phosphate levels took seven times longer to return to pre\u2010exercise concentrations than control subjects.<\/jats:p><jats:p>These results are discussed with respect to the synthesis of mitochondrial proteins and the influence that both the mitochondrial and nuclear DNA have on this process.<\/jats:p>","DOI":"10.1007\/bf03047377","type":"journal-article","created":{"date-parts":[[2009,6,25]],"date-time":"2009-06-25T03:36:15Z","timestamp":1245900975000},"page":"62-68","source":"Crossref","is-referenced-by-count":34,"title":["Mitochondrial myopathies: Disorders of the respiratory chain and oxidative phosphorylation"],"prefix":"10.1002","volume":"7","author":[{"given":"J. B.","family":"Clark","sequence":"first","affiliation":[{"name":"Department of Biochemistry, University of London St Bartholomew's Hospital Medical College  Charterhouse Square London EC1M 6BQ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. J.","family":"Hayes","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, University of London St Bartholomew's Hospital Medical College  Charterhouse Square London EC1M 6BQ UK"},{"name":"Department of Clinical Neurology University of London, Institute of Neurology, Queen Square  London WC1 3BG UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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