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The mutation was heteroplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in COX\u2010deficient fibers, but less abundant in COX\u2010positive fibers; it was not found in blood samples from the patient's asymptomatic maternal relatives. Immunoblot analysis showed a reduced concentration of both COX II and COX I polypeptides, suggesting impaired assembly of COX holoenzyme.<\/jats:p>","DOI":"10.1002\/ana.1141","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T19:58:07Z","timestamp":1030305487000},"page":"409-413","source":"Crossref","is-referenced-by-count":51,"title":["Early onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA <i>Cytochrome C oxidase II<\/i> gene"],"prefix":"10.1002","volume":"50","author":[{"given":"Yolanda","family":"Campos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Garc\u00eda\u2010Redondo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel 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