{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T18:30:18Z","timestamp":1790879418125,"version":"4.1.0"},"reference-count":41,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100003711","name":"Ministry of Science and Technology","doi-asserted-by":"publisher","award":["2011ZX09307-001-07"],"award-info":[{"award-number":["2011ZX09307-001-07"]}],"id":[{"id":"10.13039\/501100003711","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009592","name":"Beijing Municipal Science and Technology Commission","doi-asserted-by":"crossref","award":["Z151100003915126"],"award-info":[{"award-number":["Z151100003915126"]}],"id":[{"id":"10.13039\/501100009592","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","jns-journal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2017,8]]},"DOI":"10.1016\/j.jns.2017.05.056","type":"journal-article","created":{"date-parts":[[2017,5,31]],"date-time":"2017-05-31T08:31:52Z","timestamp":1496219512000},"page":"137-143","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"special_numbering":"C","title":["Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy"],"prefix":"10.1016","volume":"379","author":[{"given":"Yuanyuan","family":"Lu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danhua","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiwen","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daojun","family":"Hong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingqing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan A.M.","family":"Smeitink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaoxia","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1\u20132","key":"10.1016\/j.jns.2017.05.056_bb0005","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.ymgme.2013.07.007","article-title":"Diagnosis of mitochondrial myopathies","volume":"110","author":"Milone","year":"2013","journal-title":"Mol. Genet. Metab."},{"issue":"11","key":"10.1016\/j.jns.2017.05.056_bb0010","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1590\/0004-282X20150154","article-title":"When should MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) be the diagnosis?","volume":"73","author":"Lorenzoni","year":"2015","journal-title":"Arq. Neuropsiquiatr."},{"issue":"4","key":"10.1016\/j.jns.2017.05.056_bb0015","doi-asserted-by":"crossref","first-page":"e82","DOI":"10.1212\/NXG.0000000000000082","article-title":"Pathogenic mtDNA mutations causing mitochondrial myopathy: the need for muscle biopsy","volume":"2","author":"Hardy","year":"2016","journal-title":"Neurol. Genet."},{"key":"10.1016\/j.jns.2017.05.056_bb0020","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0169-409X(01)00123-5","article-title":"Mitochondria make a come back","volume":"49","author":"Scheffler","year":"2001","journal-title":"Adv. Drug Deliv. Rev."},{"key":"10.1016\/j.jns.2017.05.056_bb0025","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1056\/NEJM199909303411404","article-title":"Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA","volume":"341","author":"Andreu","year":"1999","journal-title":"N. Engl. J. Med."},{"issue":"1","key":"10.1016\/j.jns.2017.05.056_bb0030","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/mus.21649","article-title":"Exercise intolerance due to cytochrome b mutation","volume":"42","author":"Massie","year":"2010","journal-title":"Muscle Nerve"},{"issue":"6","key":"10.1016\/j.jns.2017.05.056_bb0035","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1007\/s100720050056","article-title":"Exercise intolerance and the mitochondrial respiratory chain","volume":"20","author":"DiMauro","year":"1999","journal-title":"Ital. J. Neurol. Sci."},{"issue":"11","key":"10.1016\/j.jns.2017.05.056_bb0045","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1038\/jhg.2011.96","article-title":"Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes","volume":"56","author":"Zhao","year":"2011","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.jns.2017.05.056_bb0050","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/0022-510X(73)90078-6","article-title":"Late onset mitochondrial myopathy","volume":"18","author":"Shibasaki","year":"1973","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.jns.2017.05.056_bb0055","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1007\/s100380050145","article-title":"Adult onset limb-girdle type mitochondrial myopathy with a mitochondrial DNA np8291 A-to-G substitution","volume":"44","author":"Hirata","year":"1999","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.jns.2017.05.056_bb0060","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1002\/1531-8249(199906)45:6<820::AID-ANA22>3.0.CO;2-W","article-title":"Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene","volume":"45","author":"Andreu","year":"1999","journal-title":"Ann. Neurol."},{"issue":"1","key":"10.1016\/j.jns.2017.05.056_bb0065","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/0960-8966(93)90040-Q","article-title":"Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA","volume":"3","author":"Moraes","year":"1993","journal-title":"Neuromuscul. Disord."},{"issue":"2","key":"10.1016\/j.jns.2017.05.056_bb0070","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1111\/j.1445-5994.1994.tb00556.x","article-title":"Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies","volume":"24","author":"Jean-Francois","year":"1994","journal-title":"Aust. NZ J. Med."},{"issue":"Pt 3","key":"10.1016\/j.jns.2017.05.056_bb0075","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1093\/brain\/118.3.721","article-title":"The mitochondrial DNA transfer RNALeu(UUR) A\u2013>G(3243) mutation. A clinical and genetic study","volume":"118","author":"Hammans","year":"1995","journal-title":"Brain"},{"issue":"5","key":"10.1016\/j.jns.2017.05.056_bb0080","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1136\/adc.82.5.407","article-title":"Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene","volume":"82","author":"Koga","year":"2000","journal-title":"Arch. Dis. Child."},{"issue":"4","key":"10.1016\/j.jns.2017.05.056_bb0085","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.jdiacomp.2014.03.006","article-title":"Maternally inherited diabetes and deafness (MIDD): diagnosis and management","volume":"28","author":"Naing","year":"2014","journal-title":"J. Diabetes Complicat."},{"issue":"34","key":"10.1016\/j.jns.2017.05.056_bb0090","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1556\/OH.2008.28398","article-title":"Maternally inherited diabetes mellitus, deafness, chronic progressive external ophthalmoplegia and myopathy as the result of A3243G mutation of mtDNA","volume":"149","author":"G\u00e1l","year":"2008","journal-title":"Orv. Hetil."},{"issue":"10","key":"10.1016\/j.jns.2017.05.056_bb0095","first-page":"715","article-title":"Mitochondrial myopathy with predominant respiratory dysfunction in a patient with A3243G mutation in the mitochondrial tRNALeu(UUR)gene","volume":"97","author":"Yang","year":"1998","journal-title":"J. Formos. Med. Assoc."},{"issue":"9","key":"10.1016\/j.jns.2017.05.056_bb0100","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1016\/j.jocn.2008.11.012","article-title":"Association of the MELAS m.3243A","volume":"16","author":"Marotta","year":"2009","journal-title":"J. Clin. Neurosci."},{"key":"10.1016\/j.jns.2017.05.056_bb0105","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1002\/(SICI)1097-4598(200004)23:4<538::AID-MUS12>3.0.CO;2-T","article-title":"Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?","volume":"23","author":"Mu\u00f1oz-M\u00e1laga","year":"2000","journal-title":"Muscle Nerve"},{"issue":"4","key":"10.1016\/j.jns.2017.05.056_bb0110","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1111\/j.1469-1809.2012.00711.x","article-title":"Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis","volume":"76","author":"Kazakos","year":"2012","journal-title":"Ann. Hum. Genet."},{"issue":"8","key":"10.1016\/j.jns.2017.05.056_bb0115","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1212\/WNL.0b013e3181d0ccf4","article-title":"Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA","volume":"74","author":"Wahbi","year":"2010","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.jns.2017.05.056_bb0120","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1007\/s00415-014-7632-0","article-title":"\u201cMyo-cardiomyopathy\u201d is commonly associated with the A8344G \u201cMERRF\u201d mutation","volume":"262","author":"Catteruccia","year":"2015","journal-title":"J. Neurol."},{"issue":"3","key":"10.1016\/j.jns.2017.05.056_bb0125","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1177\/000348941312200306","article-title":"Mitochondrial myopathy: a rare cause of early-onset vocal fold atrophy","volume":"122","author":"Kelly","year":"2013","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"10.1016\/j.jns.2017.05.056_bb0130","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1017\/S0022215100127835","article-title":"Laryngeal involvement in mitochondrial myopathy","volume":"108","author":"Hartley","year":"1994","journal-title":"J. Laryngol. Otol."},{"issue":"5","key":"10.1016\/j.jns.2017.05.056_bb0135","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00415-016-8086-3","article-title":"Expanded phenotypic spectrum of the m.8344A>G \u201cMERR\u201d mutation: data from the German mitoNET registry","volume":"263","author":"Altmann","year":"2016","journal-title":"J. Neurol."},{"issue":"26","key":"10.1016\/j.jns.2017.05.056_bb0140","doi-asserted-by":"crossref","first-page":"19559","DOI":"10.1016\/S0021-9258(19)36552-4","article-title":"Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism","volume":"268","author":"Bindoff","year":"1993","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.jns.2017.05.056_bb0145","doi-asserted-by":"crossref","first-page":"56","DOI":"10.3109\/19401736.2013.779259","article-title":"Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS","volume":"25","author":"Lin","year":"2014","journal-title":"Mitochondrial DNA"},{"issue":"5","key":"10.1016\/j.jns.2017.05.056_bb0150","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1002\/ana.20236","article-title":"The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy","volume":"56","author":"Valentino","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jns.2017.05.056_bb0155","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1002\/humu.22445","article-title":"Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome","volume":"34","author":"Delmiro","year":"2013","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.jns.2017.05.056_bb0160","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/sj.ejhg.5201363","article-title":"LHON\/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation","volume":"13","author":"Blakely","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"issue":"12","key":"10.1016\/j.jns.2017.05.056_bb0165","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1042\/CS20140705","article-title":"Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression","volume":"128","author":"Gorman","year":"2015","journal-title":"Clin. Sci. (Lond)."},{"key":"10.1016\/j.jns.2017.05.056_bb0170","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","article-title":"Mitochondrial respiratory-chain diseases","volume":"348","author":"DiMauro","year":"2003","journal-title":"N. Engl. J. Med."},{"issue":"1","key":"10.1016\/j.jns.2017.05.056_bb0175","first-page":"16","article-title":"Mitochondrial disorders of the nuclear genome","volume":"28","author":"Angelini","year":"2009","journal-title":"Acta Myologica"},{"key":"10.1016\/j.jns.2017.05.056_bb0180","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.cell.2008.06.016","article-title":"A mitochondrial protein compendium elucidates complex I disease biology","volume":"134","author":"Pagliarini","year":"2008","journal-title":"Cell"},{"issue":"4","key":"10.1016\/j.jns.2017.05.056_bb0185","first-page":"CD004426","article-title":"Treatment for mitochondrial disorders","volume":"18","author":"Pfeffe","year":"2012","journal-title":"Cochrane Database Syst. Rev."},{"issue":"2","key":"10.1016\/j.jns.2017.05.056_bb0190","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.mito.2009.01.004","article-title":"The study of mitochondrial A3243G mutation in different samples","volume":"9","author":"Ma","year":"2009","journal-title":"Mitochondrion"},{"issue":"6","key":"10.1016\/j.jns.2017.05.056_bb0195","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.nmd.2014.03.011","article-title":"Distal weakness with respiratory insufficiency caused by the m.8344A>G \u201cMERRF\u201d mutation","volume":"24","author":"Blakely","year":"2014","journal-title":"Neuromuscul. Disord."},{"issue":"9\u201310","key":"10.1016\/j.jns.2017.05.056_bb0200","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/j.nmd.2006.07.003","article-title":"So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager","volume":"16","author":"Beresford","year":"2006","journal-title":"Neuromuscul. Disord."},{"issue":"8","key":"10.1016\/j.jns.2017.05.056_bb0205","doi-asserted-by":"crossref","first-page":"e104879","DOI":"10.1371\/journal.pone.0104879","article-title":"Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient","volume":"9","author":"Miller","year":"2014","journal-title":"PLoS One"},{"issue":"8","key":"10.1016\/j.jns.2017.05.056_bb0210","doi-asserted-by":"crossref","first-page":"2020","DOI":"10.1002\/ajmg.a.36000","article-title":"Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C","volume":"161A","author":"Tarnopolsky","year":"2013","journal-title":"Am. J. Med. Genet. A"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X17303623?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X17303623?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,29]],"date-time":"2022-07-29T00:08:49Z","timestamp":1659053329000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X17303623"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8]]},"references-count":41,"alternative-id":["S0022510X17303623"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2017.05.056","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2017.05.056","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}