{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:53:57Z","timestamp":1779929637291,"version":"3.53.1"},"reference-count":15,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2016,2,11]],"date-time":"2016-02-11T00:00:00Z","timestamp":1455148800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2016,3]]},"DOI":"10.1016\/j.ymgmr.2016.02.003","type":"journal-article","created":{"date-parts":[[2016,2,21]],"date-time":"2016-02-21T23:49:00Z","timestamp":1456098540000},"page":"64-69","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"special_numbering":"C","title":["The expanding phenotype of MELAS caused by the m.3291T &gt; C mutation in the MT-TL1 gene"],"prefix":"10.1016","volume":"6","author":[{"given":"E.","family":"Kelland","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.A.","family":"Rupar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asuri N.","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.Y.","family":"Tay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Downie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.ymgmr.2016.02.003_bb0005","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/ana.410160409","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome","volume":"16","author":"Pavlakis","year":"1984","journal-title":"Ann. Neurol."},{"issue":"1","key":"10.1016\/j.ymgmr.2016.02.003_bb0010","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1600-0404.2007.00836.x","article-title":"Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation","volume":"116","author":"Finsterer","year":"2007","journal-title":"Acta Neurol. Scand."},{"issue":"3","key":"10.1016\/j.ymgmr.2016.02.003_bb0015","doi-asserted-by":"crossref","first-page":"1624","DOI":"10.1006\/bbrc.1994.2119","article-title":"A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)","volume":"202","author":"Goto","year":"1994","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgmr.2016.02.003_bb0020","unstructured":"Mitomap Mutations Database (2011). Available from: http:\/\/www.mitomap.org\/."},{"key":"10.1016\/j.ymgmr.2016.02.003_bb0025","unstructured":"Human Mitochondrial Genome Database (2005). Available from: http:\/\/www.mtdb.igp.uu.se."},{"key":"10.1016\/j.ymgmr.2016.02.003_bb0030","unstructured":"Mamit-tRNA database (1998). Available from: http:\/\/mamit-trna.u-strasbg.fr."},{"issue":"4","key":"10.1016\/j.ymgmr.2016.02.003_bb0035","doi-asserted-by":"crossref","first-page":"323","DOI":"10.3109\/19401736.2012.674119","article-title":"Is mitochondrial tRNA Leu(UUR) 3291T>C mutation pathogenic?","volume":"23","author":"Ding","year":"2012","journal-title":"Mitochondrial DNA"},{"issue":"20","key":"10.1016\/j.ymgmr.2016.02.003_bb0040","doi-asserted-by":"crossref","first-page":"7127","DOI":"10.1073\/pnas.0500563102","article-title":"Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease","volume":"102","author":"Kirino","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"1\u20132","key":"10.1016\/j.ymgmr.2016.02.003_bb0045","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.jns.2012.12.003","article-title":"The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease","volume":"325","author":"Yarham","year":"2013","journal-title":"J. Neurol. Sci."},{"issue":"6","key":"10.1016\/j.ymgmr.2016.02.003_bb0050","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/S0960-8966(99)00115-7","article-title":"Neuromuscular syndrome associated with the 3291T\u2013>C mutation of mitochondrial DNA: a second case","volume":"10","author":"Uziel","year":"2000","journal-title":"Neuromuscul. Disord."},{"issue":"1\u20132","key":"10.1016\/j.ymgmr.2016.02.003_bb0055","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.jns.2010.09.022","article-title":"Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation","volume":"300","author":"Salsano","year":"2011","journal-title":"J. Neurol. Sci."},{"issue":"5","key":"10.1016\/j.ymgmr.2016.02.003_bb0060","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1007\/s10072-011-0719-9","article-title":"Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T>C mutation in mitochondrial DNA","volume":"32","author":"Sunami","year":"2011","journal-title":"Neurol. Sci."},{"issue":"1","key":"10.1016\/j.ymgmr.2016.02.003_bb0065","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s11011-013-9464-5","article-title":"MERRF\/MELAS overlap syndrome due to the m.3291T>C mutation","volume":"29","author":"Liu","year":"2014","journal-title":"Metab. Brain Dis."},{"issue":"3","key":"10.1016\/j.ymgmr.2016.02.003_bb0070","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1002\/mus.22149","article-title":"MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation","volume":"44","author":"Emmanuele","year":"2011","journal-title":"Muscle Nerve"},{"issue":"5","key":"10.1016\/j.ymgmr.2016.02.003_bb0075","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/j.bbagen.2011.09.005","article-title":"Molecular pathology of MELAS and l-arginine effects","volume":"1820","author":"Koga","year":"2012","journal-title":"Biochim. Biophys. Acta"}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426916300088?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426916300088?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:47:31Z","timestamp":1762001251000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426916300088"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3]]},"references-count":15,"alternative-id":["S2214426916300088"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2016.02.003","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2016,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2016.02.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Crown copyright \u00a9 2016 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}