{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:43:48Z","timestamp":1761734628145,"version":"build-2065373602"},"reference-count":24,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2021,10]]},"DOI":"10.1016\/j.ejmg.2021.104306","type":"journal-article","created":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T13:13:25Z","timestamp":1628860405000},"page":"104306","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency"],"prefix":"10.1016","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8574-9824","authenticated-orcid":false,"given":"Alberte A.","family":"Lundquist","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stense","family":"Farholt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malene L.","family":"B\u00f8rresen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morten","family":"Dun\u00f8","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flemming","family":"Wibrand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nanna","family":"Witting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elsebet","family":"\u00d8stergaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.ejmg.2021.104306_bib1","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.ymgme.2004.10.003","article-title":"Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes","volume":"84","author":"Anitori","year":"2005","journal-title":"Mol. Genet. Metabol."},{"issue":"3","key":"10.1016\/j.ejmg.2021.104306_bib2","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/s10545-014-9784-6","article-title":"Reversible infantile mitochondrial diseases","volume":"38","author":"Boczonadi","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104306_bib3","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1542\/peds.2006-1866","article-title":"Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases","volume":"119","author":"Debray","year":"2007","journal-title":"Pediatrics"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104306_bib4","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1002\/ana.410140209","article-title":"Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency","volume":"14","author":"DiMauro","year":"1983","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ejmg.2021.104306_bib5","first-page":"1207","article-title":"Haplotype-based variant detection from short-read sequencing","author":"Garrison","year":"2012","journal-title":"arXiv"},{"key":"10.1016\/j.ejmg.2021.104306_bib6","doi-asserted-by":"crossref","DOI":"10.1177\/1093526619860362","article-title":"Baisre-de Leon A. A case of reversible infantile respiratory chain deficiency presenting with hypotonia, hyperammonemia, and failure to thrive","author":"Guerrero","year":"2019","journal-title":"Pediatr. Dev. Pathol."},{"issue":"5","key":"10.1016\/j.ejmg.2021.104306_bib7","first-page":"1026","article-title":"Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation","volume":"56","author":"Hanna","year":"1995","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2021.104306_bib8","first-page":"1017","article-title":"Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus","volume":"56","author":"Hao","year":"1995","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2021.104306_bib9","first-page":"551","article-title":"Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome","volume":"52","author":"Holme","year":"1993","journal-title":"Am. J. Hum. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2021.104306_bib10","doi-asserted-by":"crossref","first-page":"3165","DOI":"10.1093\/brain\/awp221","article-title":"Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy","volume":"132","author":"Horvath","year":"2009","journal-title":"Brain"},{"issue":"12","key":"10.1016\/j.ejmg.2021.104306_bib11","doi-asserted-by":"crossref","first-page":"2034","DOI":"10.1002\/ccr3.1096","article-title":"Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study","volume":"5","author":"Jeppesen","year":"2017","journal-title":"Clin Case Rep"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104306_bib12","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1097\/NEN.0b013e31828129c5","article-title":"Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study","volume":"72","author":"Lax","year":"2013","journal-title":"J. Neuropathol. Exp. Neurol."},{"issue":"6","key":"10.1016\/j.ejmg.2021.104306_bib13","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1002\/ana.22111","article-title":"Reversible infantile respiratory chain deficiency: a clinical and molecular study","volume":"68","author":"Mimaki","year":"2010","journal-title":"Ann. Neurol."},{"issue":"8","key":"10.1016\/j.ejmg.2021.104306_bib14","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1136\/adc.67.8.1033","article-title":"Reversible mitochondrial myopathy with cytochrome c oxidase deficiency","volume":"67","author":"Salo","year":"1992","journal-title":"Arch. Dis. Child."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104306_bib15","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/ana.21217","article-title":"Prevalence of mitochondrial DNA disease in adults","volume":"63","author":"Schaefer","year":"2008","journal-title":"Ann. Neurol."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104306_bib16","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1002\/ajmg.1378","article-title":"Cytochrome c oxidase deficiency","volume":"106","author":"Shoubridge","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2021.104306_bib17","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1146\/annurev-genet-110410-132531","article-title":"Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases","volume":"45","author":"Suzuki","year":"2011","journal-title":"Annu. Rev. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2021.104306_bib18","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/nrg1606","article-title":"Mitochondrial DNA mutations in human disease","volume":"6","author":"Taylor","year":"2005","journal-title":"Nat. Rev. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2021.104306_bib19","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1016\/S0735-1097(03)00300-0","article-title":"d'Amati G, Bain H, Hayes CM, Leonard H, Barron MJ, Casali C, Santorelli FM, Hirano M, Lightowlers RN, DiMauro S, Turnbull DM. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy","volume":"41","author":"Taylor","year":"2003","journal-title":"J. Am. Coll. Cardiol."},{"issue":"2","key":"10.1016\/j.ejmg.2021.104306_bib20","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1212\/WNL.41.2_Part_1.300","article-title":"Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach","volume":"41","author":"Tritschler","year":"1991","journal-title":"Neurology"},{"issue":"10","key":"10.1016\/j.ejmg.2021.104306_bib21","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1136\/jmg.2011.089995","article-title":"Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease","volume":"48","author":"Uusimaa","year":"2011","journal-title":"J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104306_bib22","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/0387-7604(96)00017-4","article-title":"Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency","volume":"18","author":"Wada","year":"1996","journal-title":"Brain and Development"},{"issue":"5","key":"10.1016\/j.ejmg.2021.104306_bib23","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1002\/mus.21541","article-title":"Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations","volume":"41","author":"Wibrand","year":"2010","journal-title":"Muscle Nerve"},{"issue":"3","key":"10.1016\/j.ejmg.2021.104306_bib24","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.ajhg.2009.08.004","article-title":"Acute infantile liver failure due to mutations in the TRMU gene","volume":"85","author":"Zeharia","year":"2009","journal-title":"Am. J. Hum. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221001725?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221001725?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:51:28Z","timestamp":1761709888000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721221001725"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10]]},"references-count":24,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["S1769721221001725"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104306","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2021,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104306","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104306"}}