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Extensive laboratory investigations rule out metabolic disorders that can be associated with optic atrophy. No mutations associated with Leber hereditary optic neuropathy (LHON) were found and sequencing of the mitochondrially encoded complex 1 subunits was normal. We suggest that this family represents either an atypical variant of LHON with a yet undescribed mtDNA mutation or a new syndrome. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20238","type":"journal-article","created":{"date-parts":[[2003,8,22]],"date-time":"2003-08-22T14:11:08Z","timestamp":1061561468000},"page":"263-265","source":"Crossref","is-referenced-by-count":9,"title":["Familial optic atrophy with white matter changes"],"prefix":"10.1002","volume":"121A","author":[{"given":"Chana","family":"Vinkler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorit","family":"Lev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadas","family":"Kalish","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan","family":"Watemberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miri","family":"Yanoov\u2010Sharav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Leshinsky\u2010Silver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tally","family":"Lerman\u2010Sagie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,8,11]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.294.6581.1183"},{"key":"e_1_2_4_3_1","first-page":"138","article-title":"Die komplizierte, hereditaer\u2010familiaere optikusatrophie des kindesalters: ein bisher nicht beschriebener Symptomenkomplex","volume":"47","author":"Behr C","year":"1909","journal-title":"Klin Mbl Augenheilk"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1997.01100150097016"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.12.2720"},{"key":"e_1_2_4_6_1","first-page":"729","article-title":"MRI of Wolfram Syndrome (DIDMOAD)","volume":"41","author":"Galluzzi P","year":"1999","journal-title":"Neurology"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.29.3.323"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(79)90565-8"},{"issue":"54","key":"e_1_2_4_9_1","first-page":"1","article-title":"Infantile optic atrophy with dominant mode of inheritance","volume":"37","author":"Kjer P","year":"1959","journal-title":"Acta Ophthalmol (Copenh)"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.1999.0255"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460307"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819509059971"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1984.01040030783017"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.6.1220"},{"key":"e_1_2_4_15_1","first-page":"1321","article-title":"Congenital ocular blindness in children, 1945 to 1984","volume":"141","author":"Robinson JC","year":"1987","journal-title":"Am J Dis Child"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/93.1.121"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.1.94"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20238","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20238","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T19:06:20Z","timestamp":1700247980000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20238"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,8,11]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,9]]}},"alternative-id":["10.1002\/ajmg.a.20238"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20238","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,8,11]]}}}