{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T14:38:28Z","timestamp":1761662308334},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,10,20]],"date-time":"2005-10-20T00:00:00Z","timestamp":1129766400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2005,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Leber's hereditary optic neuropathy (LHON) causes central vision loss from bilateral optic neuropathy. Although 13 mitochondrial DNA (mtDNA) mutations are strongly associated with LHON, only three account for roughly 90% of cases and thus are found in multiple independent LHON families. The remaining LHON mutations are rare. Here, we describe the clinical and genetic characterization of a new LHON mtDNA mutation. The 12848T mutation alters a highly conserved amino acid in the ND5 complex I gene, is not found in controls, and is heteroplasmic. Despite ND5 being the largest of the mtDNA complex I genes, ND5 mutations are quite rare in LHON. Ann Neurol 2005;58:807\u2013811<\/jats:p>","DOI":"10.1002\/ana.20669","type":"journal-article","created":{"date-parts":[[2005,10,20]],"date-time":"2005-10-20T18:19:32Z","timestamp":1129832372000},"page":"807-811","source":"Crossref","is-referenced-by-count":24,"title":["The role of the ND5 gene in LHON: Characterization of a new, heteroplasmic LHON mutation"],"prefix":"10.1002","volume":"58","author":[{"given":"Vladimir","family":"Mayorov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valerie","family":"Biousse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy J.","family":"Newman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael D.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,10,20]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2003.10.003"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M006476200"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0660-8"},{"key":"e_1_2_6_5_2","first-page":"2425","volume-title":"Mitochondria and neuro\u2010ophthalmological disease","author":"Wallace DC","year":"2001"},{"key":"e_1_2_6_6_2","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1093\/genetics\/130.1.163","article-title":"Mitochondrial DNA complex I and III mutations associated with Lebers hereditary optic neuropathy","volume":"130","author":"Brown MD","year":"1992","journal-title":"Genetics"},{"key":"e_1_2_6_7_2","first-page":"959","article-title":"When does bilateral optic atrophy become Lebers hereditary optic atrophy?","volume":"53","author":"Howell N","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_8_2","first-page":"233","article-title":"Lebers hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND6 gene","volume":"5","author":"Leo\u2010Kottler B","year":"1996","journal-title":"Ger J Ophthalmol"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0042-6989(96)00167-8"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200302000-00005"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10646"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/13779"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/144.4.1835"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/320591"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/339933"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/molbev\/msh209"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1086\/425590"},{"key":"e_1_2_6_18_2","unstructured":"MITOMAP: A human mitochondrial genome database.2005;http:\/\/www.mitomap.org."},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2728(92)90001-I"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.1.209"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20236"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.20669","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.20669","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T06:51:08Z","timestamp":1697439068000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.20669"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10,20]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,11]]}},"alternative-id":["10.1002\/ana.20669"],"URL":"https:\/\/doi.org\/10.1002\/ana.20669","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,10,20]]}}}