{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T19:20:46Z","timestamp":1770578446057,"version":"3.49.0"},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Leigh syndrome (LS) is a subacute necrotizing encephalomyelopathy with a diverse range of symptoms, such as psychomotor delay or regression, weakness, hypotonia, truncal ataxia, intention tremor as well as lactic acidosis in the blood, cerebrospinal fluid or urine. Both nuclear gene defects and mutations of the mitochondrial genome have been detected in these patients. Here we report a 7-year-old girl with hypotonia, tremor, developmental delay and psychomotor regression. However, serum lactate level as well as brain magnetic resonance imaging were normal. Mutational analysis has revealed a novel mutation in exon 4 of<\/jats:p>","DOI":"10.1515\/jpem-2015-0396","type":"journal-article","created":{"date-parts":[[2016,3,9]],"date-time":"2016-03-09T12:11:00Z","timestamp":1457525460000},"source":"Crossref","is-referenced-by-count":11,"title":["Leigh syndrome associated with a novel mutation in the COX15 gene"],"prefix":"10.1515","volume":"29","author":[{"given":"Mohammad","family":"Miryounesi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majid","family":"Fardaei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyed Mohammadbagher","family":"Tabei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soudeh","family":"Ghafouri-Fard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref101","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1007\/s00439-015-1577-y","article-title":"Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome","volume":"134","year":"2015","journal-title":"Hum Genet"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1007\/s00439-015-1577-y","article-title":"Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome","volume":"134","year":"2015","journal-title":"Hum Genet"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"e28","DOI":"10.1136\/jmg.2004.029926","article-title":"Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency","volume":"42","year":"2005","journal-title":"J Med Genet"},{"key":"ref151","first-page":"1003","article-title":"Growth hormone deficiency in a patient with mitochondrial disease","volume":"28","year":"2015","journal-title":"J Pediatr Endocr Met"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/sj.ejhg.5200773","article-title":"Leigh disease associated with a novel mitochondrial DNA ND5 mutation","volume":"10","year":"2002","journal-title":"Eur J Hum Genet"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1006\/geno.1998.5580","article-title":"Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain","volume":"54","year":"1998","journal-title":"Genomics"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/sj.ejhg.5200773","article-title":"Leigh disease associated with a novel mitochondrial DNA ND5 mutation","volume":"10","year":"2002","journal-title":"Eur J Hum Genet"},{"key":"ref11","first-page":"1003","article-title":"Growth hormone deficiency in a patient with mitochondrial disease","volume":"28","year":"2015","journal-title":"J Pediatr Endocr Met"},{"key":"ref161","first-page":"363","article-title":"Radiologic manifestation of a BCS1L-mutated patient","volume":"27","year":"2014","journal-title":"J Pediatr Endocr Met"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1136\/jmg.2003.017426","article-title":"Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome","volume":"41","year":"2004","journal-title":"J Med Genet"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1086\/345489","article-title":"Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy","volume":"72","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1086\/345489","article-title":"Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy","volume":"72","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref81","first-page":"1502","article-title":"Leigh syndrome: serial MR imaging and clinical follow-up","volume":"21","year":"2000","journal-title":"AJNR. Am J Neuroradiol"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1136\/jmg.2003.017426","article-title":"Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome","volume":"41","year":"2004","journal-title":"J Med Genet"},{"key":"ref21","first-page":"363","article-title":"Radiologic manifestation of a BCS1L-mutated patient","volume":"27","year":"2014","journal-title":"J Pediatr Endocr Met"},{"key":"ref71","first-page":"622010","article-title":"A rare mitochondrial disorder: leigh sydrome","volume":"36","year":"2010","journal-title":"Ital J Pediatr"},{"key":"ref131","first-page":"840","article-title":"Infantile cardioencephalopathy due to a COX15 gene defect: report and review","volume":"155A","year":"2011","journal-title":"Am J Med Genet A"},{"key":"ref271","first-page":"840","article-title":"Infantile cardioencephalopathy due to a COX15 gene defect: report and review","volume":"155A","year":"2011","journal-title":"Am J Med Genet A"},{"key":"ref221","first-page":"1502","article-title":"Leigh syndrome: serial MR imaging and clinical follow-up","volume":"21","year":"2000","journal-title":"AJNR. Am J Neuroradiol"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1186\/1471-2377-11-85","article-title":"Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report","volume":"11","year":"2011","journal-title":"BMC Neurol"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/s10545-015-9823-y","article-title":"Whole exome sequencing of suspected mitochondrial patients in clinical practice","volume":"38","year":"2015","journal-title":"J Inherit Metab Dis"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1006\/geno.1998.5580","article-title":"Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain","volume":"54","year":"1998","journal-title":"Genomics"},{"key":"ref211","first-page":"622010","article-title":"A rare mitochondrial disorder: leigh sydrome","volume":"36","year":"2010","journal-title":"Ital J Pediatr"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/ana.24551","article-title":"Leigh syndrome: one disorder, more than 75 monogenic causes","volume":"79","year":"2016","journal-title":"Ann Neurol"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/ana.24551","article-title":"Leigh syndrome: one disorder, more than 75 monogenic causes","volume":"79","year":"2016","journal-title":"Ann Neurol"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/s10545-015-9823-y","article-title":"Whole exome sequencing of suspected mitochondrial patients in clinical practice","volume":"38","year":"2015","journal-title":"J Inherit Metab Dis"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"e28","DOI":"10.1136\/jmg.2004.029926","article-title":"Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency","volume":"42","year":"2005","journal-title":"J Med Genet"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1186\/1471-2377-11-85","article-title":"Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report","volume":"11","year":"2011","journal-title":"BMC Neurol"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2015-0396\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:40:09Z","timestamp":1619055609000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2015-0396\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,1]]},"references-count":28,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2015-0396","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2016,1,1]]}}}