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She had decreased complex I and IV enzyme activity and ragged red fibers on muscle biopsy. An A to G transition at nucleotide position 7526 in tRNA Aspartate (<jats:italic>tRNA<jats:sup>Asp<\/jats:sup><\/jats:italic>) gene was heteroplasmic in several of the patient's tissues. We were unable to detect the mutation in muscle tissue from the patient's mother. This case adds a new genetic etiology for mitochondrial myopathy. It also illustrates for patients with combined deficiency of the complex I and IV enzyme activity the value of sequencing in the affected tissue muscle, and not only in blood, all mitochondrial <jats:italic>tRNA<\/jats:italic> genes including those not commonly affected, such as in this case mt tRNA<jats:sup>Asp<\/jats:sup>. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30854","type":"journal-article","created":{"date-parts":[[2005,7,29]],"date-time":"2005-07-29T23:47:35Z","timestamp":1122680855000},"page":"170-175","source":"Crossref","is-referenced-by-count":32,"title":["A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy"],"prefix":"10.1002","volume":"137A","author":[{"given":"Sara","family":"Seneca","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Goemans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudy 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