{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:09:12Z","timestamp":1777370952055,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2472,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1998,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a patient who presented with progressive ataxia, sezures, mental deterioration, mild myopathy, and hearing loss. A novel heteroplasmic G\u2010to\u2010A transition was found, affecting the acceptor stem of the mitochondrial (mt) tRNA<jats:sup>Val<\/jats:sup> gene. Mutant mtDNA was 67% of total mtDNA in the muscle of the proband and was also present at low levels in the muscle of his healthy mother. It was absent in all of the numerous control DNA samples that were tested. Analysis of single muscle fibers revealed a significantly greater level of mutant mtDNA in cytochrome <jats:italic>c<\/jats:italic> oxidase\u2010negative fibers. Mutations of mtDNA may be responsible of neurological syndromes that, like the case reported here, are clinically puzzling, and lack typical \u201cmitochondrial\u201d clues, such as elevated levels of blood lactate, overt defects of the respiratory complexes, and clinically documented maternal inheritance.<\/jats:p>","DOI":"10.1002\/ana.410430116","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:10:19Z","timestamp":1104592219000},"page":"98-101","source":"Crossref","is-referenced-by-count":36,"title":["A novel mutation in the mitochondrial tRNA<sup>Val<\/sup> gene associated with a complex neurological presentation"],"prefix":"10.1002","volume":"43","author":[{"given":"Valeria","family":"Tiranti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"D'Agruma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Pareyson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Mora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco Carrara","family":"St","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leopoldo","family":"Zelante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Gasparini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799111"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/20.4.871"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02267073"},{"key":"e_1_2_1_5_2","first-page":"203","article-title":"Rapid detection of the A \u2192 G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and regged\u2010red fibers (MERRF)","volume":"48","author":"Zeviani M","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.1.13"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/3.2.133"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(90)90006-9"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(94)90058-2"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1421"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310408"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(93)90040-Q"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00878873"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.63.1.16"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410430116","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410430116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T19:23:34Z","timestamp":1698521014000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410430116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,1]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1998,1]]}},"alternative-id":["10.1002\/ana.410430116"],"URL":"https:\/\/doi.org\/10.1002\/ana.410430116","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,1]]}}}