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These disorders are reviewed, with particular emphasis on the defects of the respiratory chain. Defects of complex I, III and IV show remarkable clinical and biochemical heterogeneity. All 3 complexes contain some subunits encoded by mtDNA and others encoded by nuclear DNA. At least some of the cytoplasmically made subunits appear to be tissue specific and may be developmentally regulated, thus explaining the genetic heterogeneity of these disorders.<\/jats:p>","DOI":"10.1007\/bf01812852","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T19:20:56Z","timestamp":1119900056000},"page":"113-128","source":"Crossref","is-referenced-by-count":66,"title":["Mitochondrial myopathies"],"prefix":"10.1002","volume":"10","author":[{"given":"S.","family":"DiMauro","sequence":"first","affiliation":[{"name":"H. 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