{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T02:27:32Z","timestamp":1790389652578,"version":"4.1.0"},"reference-count":10,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"published-print":{"date-parts":[[2013,8,1]]},"DOI":"10.1136\/jnnp-2012-303528","type":"journal-article","created":{"date-parts":[[2013,1,25]],"date-time":"2013-01-25T20:58:48Z","timestamp":1359147528000},"page":"936-938","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":217,"title":["The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A&gt;G mutation--implications for diagnosis and management"],"prefix":"10.1136","volume":"84","author":[{"given":"V.","family":"Nesbitt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. D. S.","family":"Pitceathly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. M.","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. G.","family":"Sweeney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. E.","family":"Mudanohwo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. G.","family":"Hanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"McFarland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2013,1,25]]},"reference":[{"key":"key-10.1136\/jnnp-2012-303528-1","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.bbabio.2009.09.005","article-title":"Mitochondrial DNA mutations and human disease","volume":"1797","author":"Tuppen","year":"2010","journal-title":"Biochim Biophys"},{"key":"key-10.1136\/jnnp-2012-303528-2","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1093\/brain\/120.10.1713","article-title":"Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes","volume":"120","author":"Chinnery","year":"1997","journal-title":"Brain"},{"key":"key-10.1136\/jnnp-2012-303528-3","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1136\/jnnp.65.4.512","article-title":"MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity","volume":"65","author":"Hanna","year":"1998","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key-10.1136\/jnnp-2012-303528-4","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1212\/WNL.25.7.614","article-title":"Familial poliodystrophy, mitochondrial myopathy, and lactate acidaemia","volume":"25","author":"Shapira","year":"1975","journal-title":"Neurology"},{"key":"key-10.1136\/jnnp-2012-303528-5","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/ana.410160409","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome","volume":"16","author":"Pavlakis","year":"1984","journal-title":"Ann Neurol"},{"key":"key-10.1136\/jnnp-2012-303528-6","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/0960-8966(92)90045-8","article-title":"MELAS: an original case and clinical criteria for diagnosis","volume":"2","author":"Hirano","year":"1992","journal-title":"Neuromusc Dis"},{"key":"key-10.1136\/jnnp-2012-303528-7","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/348651a0","article-title":"A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies","volume":"348","author":"Goto","year":"1990","journal-title":"Nature"},{"key":"key-10.1136\/jnnp-2012-303528-8","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.mito.2006.12.004","article-title":"Population prevalence of the MELAS A3243G mutation","volume":"7","author":"Manwaring","year":"2007","journal-title":"Mitochondrion"},{"key":"key-10.1136\/jnnp-2012-303528-9","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1016\/j.ajhg.2008.07.004","article-title":"Pathogenic mitochondrial DNA mutations are common in the general population","volume":"83","author":"Elliott","year":"2008","journal-title":"Amer J Hum Genet"},{"key":"key-10.1136\/jnnp-2012-303528-10","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":"Neuromusc Disord"}],"container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp-2012-303528","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T13:49:54Z","timestamp":1601041794000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp-2012-303528"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,25]]},"references-count":10,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2013,7,8]]},"published-print":{"date-parts":[[2013,8,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp-2012-303528","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.717976165.793470457","asserted-by":"object"}]},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[2013,1,25]]}}}