{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T15:16:30Z","timestamp":1769267790278,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,8,18]],"date-time":"2011-08-18T00:00:00Z","timestamp":1313625600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["NIH HD32062"],"award-info":[{"award-number":["NIH HD32062"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Marriott Mitochondrial Disorders Clinical Research Fund"},{"name":"NIH","award":["R01HD57543"],"award-info":[{"award-number":["R01HD57543"]}]},{"name":"NIH","award":["R01HD056103"],"award-info":[{"award-number":["R01HD056103"]}]},{"name":"NIH","award":["RCNS070232"],"award-info":[{"award-number":["RCNS070232"]}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2011,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 48\u2010year\u2010old man presented with a complex phenotype of myoclonus epilepsy with ragged\u2010red fibers (MERRF) syndrome and Kearns\u2013Sayre syndrome (KSS), which included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy, bifascicular heart block, and ragged\u2010red fibers. The m.3291T&gt;C mutation in the tRNA<jats:sup>Leu(UUR)<\/jats:sup> gene was found with 92% heteroplasmy in muscle. This mutation has been reported with MELAS, myopathy, and deafness with cognitive impairment. This is the first description with a MERRF\/KSS syndrome. Muscle Nerve 44: 448\u2013451, 2011<\/jats:p>","DOI":"10.1002\/mus.22149","type":"journal-article","created":{"date-parts":[[2011,4,29]],"date-time":"2011-04-29T17:37:22Z","timestamp":1304098642000},"page":"448-451","source":"Crossref","is-referenced-by-count":22,"title":["MERRF and Kearns\u2013Sayre overlap syndrome due to the mitochondrial DNA m.3291T&gt;C mutation"],"prefix":"10.1002","volume":"44","author":[{"given":"Valentina","family":"Emmanuele","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David S.","family":"Silvers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evangelia","family":"Sotiriou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kurenai","family":"Tanji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"DiMAURO","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michio","family":"Hirano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,8,18]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/331717a0"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.3201231"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki079"},{"key":"e_1_2_8_5_2","first-page":"789","article-title":"A common mitochondrial DNA mutation in the t\u2010RNA(Lys) of patients with myoclonus epilepsy associated with ragged\u2010red fibers","volume":"21","author":"Yoneda M","year":"1990","journal-title":"Biochem Int"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799606"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410220409"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0091-679X(06)80022-1"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0169-409X(01)00124-7"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.91.4.955"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.8.1339"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1994.2119"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2004.11.004"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0500563102"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00115-7"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2008.10.001"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00283-3"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.22149","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.22149","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.22149","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T20:58:00Z","timestamp":1696885080000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.22149"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,8,18]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,9]]}},"alternative-id":["10.1002\/mus.22149"],"URL":"https:\/\/doi.org\/10.1002\/mus.22149","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,8,18]]}}}