{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T19:39:13Z","timestamp":1768678753096,"version":"3.49.0"},"reference-count":7,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2014,6,1]],"date-time":"2014-06-01T00:00:00Z","timestamp":1401580800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,6,1]],"date-time":"2014-06-01T00:00:00Z","timestamp":1401580800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2014,3,27]],"date-time":"2014-03-27T00:00:00Z","timestamp":1395878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2014,6]]},"DOI":"10.1016\/j.nmd.2014.03.011","type":"journal-article","created":{"date-parts":[[2014,3,31]],"date-time":"2014-03-31T23:05:24Z","timestamp":1396307124000},"page":"533-536","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"title":["Distal weakness with respiratory insufficiency caused by the m.8344A > G \u201cMERRF\u201d mutation"],"prefix":"10.1016","volume":"24","author":[{"given":"Emma L.","family":"Blakely","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte L.","family":"Alston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryan","family":"Lecky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biswajit","family":"Chakrabarti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gavin","family":"Falkous","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglass M.","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grainne S.","family":"Gorman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2014.03.011_b0005","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"},{"key":"10.1016\/j.nmd.2014.03.011_b0010","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/0022-510X(80)90031-3","article-title":"Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature","volume":"47","author":"Fukuhara","year":"1980","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2014.03.011_b0015","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/0092-8674(90)90059-N","article-title":"Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation","volume":"61","author":"Shoffner","year":"1990","journal-title":"Cell"},{"key":"10.1016\/j.nmd.2014.03.011_b0020","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1212\/WNL.0b013e318294b44c","article-title":"Phenotypic heterogeneity of the 8344A>G mtDNA \u201cMERRF\u201d mutation","volume":"80","author":"Mancuso","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2014.03.011_b0025","doi-asserted-by":"crossref","first-page":"2952","DOI":"10.1093\/brain\/awq232","article-title":"The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families","volume":"133","author":"Tuppen","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2014.03.011_b0030","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1038\/ejhg.2011.124","article-title":"Maternally inherited mitochondrial DNA disease in consanguineous families","volume":"19","author":"Alston","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2014.03.011_b0035","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"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896614000868?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896614000868?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:01:59Z","timestamp":1760774519000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896614000868"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6]]},"references-count":7,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["S0960896614000868"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2014.03.011","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2014,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Distal weakness with respiratory insufficiency caused by the m.8344A>G \u201cMERRF\u201d mutation","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2014.03.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}