{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T15:11:26Z","timestamp":1760973086934,"version":"build-2065373602"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,10,17]],"date-time":"2003-10-17T00:00:00Z","timestamp":1066348800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2004,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting \u201cmitochondrial\u2010like\u201d optic atrophy and dystonia. A candidate tRNA<jats:sup>Gly<\/jats:sup> mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family. \u00a9 2003 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.10646","type":"journal-article","created":{"date-parts":[[2004,2,17]],"date-time":"2004-02-17T04:00:27Z","timestamp":1076990427000},"page":"235-237","source":"Crossref","is-referenced-by-count":8,"title":["Complete mitochondrial DNA sequence analysis in a family with early\u2010onset dystonia and optic atrophy"],"prefix":"10.1002","volume":"19","author":[{"given":"Michael D.","family":"Brown","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyed","family":"Hosseini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Israel","family":"Steiner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglas C.","family":"Wallace","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Korn\u2010Lubetzki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,10,17]]},"reference":[{"key":"e_1_2_3_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.13.6206"},{"key":"e_1_2_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380207"},{"key":"e_1_2_3_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.8.1053"},{"key":"e_1_2_3_5_2","first-page":"295","article-title":"Clinical spectrum of Leber's hereditary optic neuropathy","volume":"4","author":"Kerrison JB","year":"1997","journal-title":"Clin Neurosci"},{"key":"e_1_2_3_6_2","first-page":"703","article-title":"Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia","volume":"58","author":"De Vries DD","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(97)00106-8"},{"key":"e_1_2_3_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/13779"},{"key":"e_1_2_3_9_2","doi-asserted-by":"publisher","DOI":"10.1086\/320591"},{"key":"e_1_2_3_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/144.4.1835"},{"key":"e_1_2_3_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0660-8"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.10646","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.10646","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:29:48Z","timestamp":1760970588000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.10646"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,17]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,2]]}},"alternative-id":["10.1002\/mds.10646"],"URL":"https:\/\/doi.org\/10.1002\/mds.10646","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2003,10,17]]}}}