{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:17:14Z","timestamp":1777803434317,"version":"3.51.4"},"reference-count":31,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2010,12,31]],"date-time":"2010-12-31T00:00:00Z","timestamp":1293753600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2011,4]]},"abstract":"<jats:p>An increasing number of reports describe mutations in mitochondrial DNA coding regions, especially in mitochondrial DNA\u2014 encoded nicotinamide adenine dinucleotide dehydrogenase subunit genes of the respiratory chain complex I, as causing early-onset Leigh syndrome. The authors report the molecular findings in a 24-year-old patient with juvenile-onset Leigh syndrome presenting with optic atrophy, ataxia dystonia, and epilepsy. A brain magnetic resonance imaging revealed bilateral basal ganglia and thalamic hypointensities, and a magnetic resonance spectroscopy revealed an increased lactate peak. The authors identified a T14487C change causing M63V substitution in the mitochondrial ND6 gene. The mutation was heteroplasmic in muscle and blood samples, with different mutation loads, and was absent in the patient\u2019s mother\u2019s urine and blood samples. They suggest that the T14487C mtDNA mutation should be analyzed in Leigh syndrome, presenting with optic atrophy, ataxia, dystonia, and epilepsy, regardless of age.<\/jats:p>","DOI":"10.1177\/0883073810384615","type":"journal-article","created":{"date-parts":[[2010,12,31]],"date-time":"2010-12-31T21:38:13Z","timestamp":1293831493000},"page":"476-481","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":18,"title":["Juvenile Leigh Syndrome, Optic Atrophy, Ataxia, Dystonia, and Epilepsy due to T14487C Mutation in the mtDNA-ND6 Gene: A Mitochondrial Syndrome Presenting From Birth to Adolescence"],"prefix":"10.1177","volume":"26","author":[{"given":"Esther","family":"Leshinsky-Silver","sequence":"first","affiliation":[{"name":"Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel, Mitochondrial Disease Center, Wolfson Medical Center, Holon, Israel, Sackler School of Medicine, Tel Aviv University, Israel,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruslan","family":"Shuvalov","sequence":"additional","affiliation":[{"name":"Mitochondrial Disease Center, Wolfson Medical Center, Holon, Israel, Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shani","family":"Inbar","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarit","family":"Cohen","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorit","family":"Lev","sequence":"additional","affiliation":[{"name":"Mitochondrial Disease Center, Wolfson Medical Center, Holon, Israel, Sackler School of Medicine, Tel Aviv University, Israel, Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tally","family":"Lerman-Sagie","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine, Tel Aviv University, Israel, Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2010,12,31]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2010.03.028"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.14.3.216"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra022567"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2008.11.014"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200773"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1203\/01.PDR.0000117844.73436.68"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.188"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.12.896"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10787"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10687"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1084"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-003-0116-1"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1016\/S1567-7249(03)00003-5"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200007)48:1<102::AID-ANA15>3.0.CO;2-M"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10682"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10734"},{"key":"atypb17","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.33588\/rn.3912.2004296","volume":"39","author":"Raspall-Chaure M.","year":"2004","journal-title":"Rev Neurol"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2004.09.006"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20570"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm114"},{"key":"atypb21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.10.006"},{"key":"atypb22","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2008.11.014"},{"key":"atypb23","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.157354"},{"key":"atypb24","doi-asserted-by":"publisher","DOI":"10.1055\/s-2003-39607"},{"key":"atypb25","doi-asserted-by":"publisher","DOI":"10.1177\/08830738030180011401"},{"key":"atypb26","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420220"},{"key":"atypb27","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.1.219"},{"key":"atypb28","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80734-6"},{"key":"atypb29","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(94)90055-8"},{"key":"atypb30","doi-asserted-by":"publisher","DOI":"10.1016\/S0091-679X(06)80010-5"},{"key":"atypb31","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.06-0295"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073810384615","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073810384615","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:36:18Z","timestamp":1777494978000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073810384615"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12,31]]},"references-count":31,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,4]]}},"alternative-id":["10.1177\/0883073810384615"],"URL":"https:\/\/doi.org\/10.1177\/0883073810384615","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,12,31]]}}}