{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T10:13:23Z","timestamp":1785838403549,"version":"3.56.0"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2002,4,23]],"date-time":"2002-04-23T00:00:00Z","timestamp":1019520000000},"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":[[2002,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A novel mitochondrial DNA C4171A mutation in the <jats:italic>ND1<\/jats:italic> gene in two Korean families with Leber's hereditary optic neuropathy is described. All affected patients recovered spontaneously after suffering months to years of initial visual loss. This mutation replaces leucine with methionine in a conserved extramembrane loop of the <jats:italic>ND1<\/jats:italic> gene and was absent in 514 normal controls and in 63 Leber's hereditary optic neuropathy lineages harboring the primary mutations. We consider mitochondrial DNA C4171A\/ND1 a primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis.<\/jats:p>","DOI":"10.1002\/ana.10177","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T12:20:06Z","timestamp":1033906806000},"page":"630-634","source":"Crossref","is-referenced-by-count":50,"title":["Mitochondrial DNA C4171A\/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis"],"prefix":"10.1002","volume":"51","author":[{"given":"Ji Yeon","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeong\u2010Min","family":"Hwang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung Sup","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,4,23]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.2.81"},{"key":"e_1_2_5_3_2","first-page":"2425","volume-title":"The metabolic and molecular bases of inherited disease","author":"Wallace DC","year":"2001"},{"key":"e_1_2_5_4_2","first-page":"481","article-title":"Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy","volume":"59","author":"Mackey DA","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004170050307"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.1.209"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/3108"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2728(92)90001-I"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/13779"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.6.1623"},{"key":"e_1_2_5_12_2","first-page":"1147","article-title":"A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy","volume":"48","author":"Huoponen K","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M006476200"},{"key":"e_1_2_5_14_2","first-page":"935","article-title":"Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation","volume":"48","author":"Howell N","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202007"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199903)45:3<320::AID-ANA7>3.0.CO;2-L"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(90)80878-M"},{"key":"e_1_2_5_18_2","first-page":"130","article-title":"Primary LHON mutations: trying to separate \u201cfruyt\u201d from \u201cchaf.\u201d","volume":"2","author":"Howell N","year":"1994","journal-title":"Clin Neurosci"},{"key":"e_1_2_5_19_2","first-page":"10","article-title":"Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation","volume":"12","author":"Stone EM","year":"1992","journal-title":"J Clin Neuroophthalmol"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1993.01090040087038"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.10177","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.10177","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T11:10:41Z","timestamp":1700392241000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.10177"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,4,23]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2002,5]]}},"alternative-id":["10.1002\/ana.10177"],"URL":"https:\/\/doi.org\/10.1002\/ana.10177","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,4,23]]}}}