{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:13:07Z","timestamp":1790874787398,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"20","license":[{"start":{"date-parts":[[2006,9,5]],"date-time":"2006-09-05T00:00:00Z","timestamp":1157414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Patients with mitochondrial disease usually manifest multisystemic dysfunction with a broad clinical spectrum. When the tests for common mitochondrial DNA (mtDNA) point mutations are negative and the mtDNA defects are still hypothesized, it is necessary to screen the entire mitochondrial genome for unknown mutations in order to confirm the diagnosis. We report an 8\u2010year\u2010old girl who had a long history of ragged\u2010red fiber myopathy, short stature, and deafness, who ultimately developed renal failure and fatal cardiac dysfunction. Respiratory chain enzyme analysis on muscle biopsy revealed deficiency in complexes I, II\/III, and IV. Whole mitochondrial genome sequencing analysis was performed. Three novel changes: homoplasmic 15458T\u2009&gt;\u2009C and 15519T\u2009&gt;\u2009C in cytochrome b, and a near homoplasmic 5783G\u2009&gt;\u2009A in tRNA<jats:sup>cys<\/jats:sup>, were found in the proband in various tissues. Her mother and asymptomatic sibling also carry the two homoplasmic mutations and the heteroplasmic 5783G\u2009&gt;\u2009A mutation in blood, hair follicles, and buccal cells, at lower percentage. The 5783G\u2009&gt;\u2009A mutation occurs at the T arm of tRNA<jats:sup>cys<\/jats:sup>, resulting in the disruption of the stem structure, which may reduce the stability of the tRNA. 15458T\u2009&gt;\u2009C changes an amino acid serine to proline at a conserved \u03b1\u2010helix, which may force the helix to bend. These two mutations may have pathogenic significance. This case emphasizes the importance of pursuing more extensive mutational analysis of mtDNA in the absence of common mtDNA point mutations or large deletions, when there is a high suspicion of a mitochondrial disorder. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31436","type":"journal-article","created":{"date-parts":[[2006,9,5]],"date-time":"2006-09-05T17:23:09Z","timestamp":1157476989000},"page":"2216-2222","source":"Crossref","is-referenced-by-count":25,"title":["Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness"],"prefix":"10.1002","volume":"140A","author":[{"given":"Annette","family":"Feigenbaum","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u2010Kui","family":"Bai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily 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