{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T01:34:41Z","timestamp":1780104881330,"version":"3.54.0"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2002,5,3]],"date-time":"2002-05-03T00:00:00Z","timestamp":1020384000000},"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":[[2002,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber's hereditary optic neuropathy with visual recovery in an Italian family. These equivalent changes are the fifth pathogenic mutation for pure Leber's hereditary optic neuropathy. This confirms that the ND6 gene of complex I is a mutational hot spot and suggests that different amino acid substitutions at residue 64, as induced by C14482G or C14482A (M64I) and the common T14484C (M64V) mutations, are associated with visual recovery.<\/jats:p>","DOI":"10.1002\/ana.10193","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:29:46Z","timestamp":1030318186000},"page":"774-778","source":"Crossref","is-referenced-by-count":39,"title":["Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy"],"prefix":"10.1002","volume":"51","author":[{"given":"Maria Lucia","family":"Valentino","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Avoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Barboni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Pallotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Rengo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Torroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzio","family":"Bellan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agostino","family":"Baruzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Carelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,5,3]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1877-3419(09)70063-7"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.1.209"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380207"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200007)48:1<102::AID-ANA15>3.0.CO;2-M"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/301675"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1997.6660"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1086\/302642"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_6_10_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_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9297(07)62954-1"},{"key":"e_1_2_6_12_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_6_13_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.16.3.771"},{"key":"e_1_2_6_14_2","unstructured":"MITOMAP: a human mitochondrial genome database. 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