{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:36:58Z","timestamp":1791250618293,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,7,17]],"date-time":"2002-07-17T00:00:00Z","timestamp":1026864000000},"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":[[2002,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Leber's hereditary optic neuropathy is a mitochondrial disease caused by point mutations in mitochondrial DNA. It usually presents as severe bilateral visual loss in young adults. We report on a neurological disorder resembling Leigh syndrome, which complicated Leber's hereditary optic neuropathy in three unrelated male patients harboring mitochondrial DNA mutations at nucleotide positions 3460, 14459, and 14484, respectively. This Leigh\u2010like encephalopathy appears to be associated with a much more severe outcome than isolated Leber's hereditary optic neuropathy.<\/jats:p>","DOI":"10.1002\/ana.10299","type":"journal-article","created":{"date-parts":[[2002,10,8]],"date-time":"2002-10-08T23:00:24Z","timestamp":1034118024000},"page":"374-377","source":"Crossref","is-referenced-by-count":64,"title":["Leigh\u2010like encephalopathy complicating Leber's hereditary optic neuropathy"],"prefix":"10.1002","volume":"52","author":[{"given":"Beno\u00eet","family":"Funalot","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Reynier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Vighetto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dani\u00e8le","family":"Ranoux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Paul","family":"Bonnefont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Godinot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Malthi\u00e8ry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Louis","family":"Mas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,7,17]]},"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","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.13.6206"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.59.2.160"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.61.5.533"},{"key":"e_1_2_5_6_2","first-page":"595","article-title":"Maladie de Leber \u201cplus\u201d: neuropathie optique, syndrome parkinsonien et ophthalmoplegie supranucleaire","volume":"153","author":"Thobois S","year":"1997","journal-title":"Rev Neurol"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-59884-5_28"},{"key":"e_1_2_5_8_2","first-page":"1107","article-title":"Haplotype and phylogenetic analyses suggest that one European\u2010specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484","volume":"60","author":"Torroni A","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/115.4.979"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.8.1053"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380207"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(92)90265-M"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.14.3.216"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(91)90222-S"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390311"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1086\/302169"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004010051007"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00818714"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.3109\/13816819509059971"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0005-2728(98)00162-5"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200007)48:1<102::AID-ANA15>3.0.CO;2-M"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.10299","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.10299","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T15:19:29Z","timestamp":1700320769000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.10299"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,7,17]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,9]]}},"alternative-id":["10.1002\/ana.10299"],"URL":"https:\/\/doi.org\/10.1002\/ana.10299","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,7,17]]}}}