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He suffered from septo\u2010optic dysplasia, retinitis pigmentosa, exercise intolerance, hypertrophic cardiomyopathy, and rhabdomyolysis. A <jats:italic>HESX1<\/jats:italic> mutation was excluded as a cause of his septo\u2010optic dysplasia. Low \u03b1\u2010tocopherol concentrations in his muscles and an elevated urinary leukotriene E<jats:sub>4<\/jats:sub> excretion indicate increased production of reactive oxygen species.<\/jats:p>","DOI":"10.1002\/ana.10151","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:10:52Z","timestamp":1030317052000},"page":"388-392","source":"Crossref","is-referenced-by-count":76,"title":["Septo\u2010optic dysplasia associated with a new mitochondrial <i>cytochrome b<\/i> mutation"],"prefix":"10.1002","volume":"51","author":[{"given":"Markus","family":"Schuelke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heiko","family":"Krude","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Finckh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ertan","family":"Mayatepek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoon","family":"Janssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Schmelz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedrich","family":"Trefz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frans","family":"Trijbels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Smeitink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,2,28]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng706"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2000.tb00275.x"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/316900"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(97)05379-3"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.47.1.243"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70324-5"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70424-5"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440420"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200011)48:5<774::AID-ANA11>3.0.CO;2-I"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199501000-00001"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5322.60"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002940050525"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.47.256.973"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/477"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199901)45:1<130::AID-ART21>3.0.CO;2-Z"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.11.1221"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051009"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)90107-4"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973792"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1006\/excr.1998.4421"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.10151","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.10151","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T04:32:11Z","timestamp":1697517131000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.10151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,2,28]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,3]]}},"alternative-id":["10.1002\/ana.10151"],"URL":"https:\/\/doi.org\/10.1002\/ana.10151","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,2,28]]}}}