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The eventual development of proximal weakness led to pathological and genetic testing which identified a A8344G mutation in the mitochondrial tRNA lysine gene, associated with MERRF (myoclonic epilepsy with ragged\u2010red fibers). This case demonstrates how the varied terminology for this syndrome has resulted in a lack of consistent recognition and assessment for mitochondrial cytopathy. Muscle Nerve, 2005<\/jats:p>","DOI":"10.1002\/mus.20406","type":"journal-article","created":{"date-parts":[[2005,7,8]],"date-time":"2005-07-08T21:50:18Z","timestamp":1120859418000},"page":"142-146","source":"Crossref","is-referenced-by-count":19,"title":["Multiple lipomas, alcoholism, and neuropathy: Madelung's disease or MERRF?"],"prefix":"10.1002","volume":"33","author":[{"given":"Kerrie","family":"Schoffer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian","family":"Grant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,7,8]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1054\/bjps.2002.3911"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004030050368"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410290519"},{"key":"e_1_2_6_5_2","first-page":"275","volume-title":"Pathology and surgery","author":"Brodie BC","year":"1846"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ijo.0802427"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880170815"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198401000-00004"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198511000-00003"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199905133401906"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1067\/mhn.2002.122004"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/116.3.617"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1006877012241"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2000.0264"},{"key":"e_1_2_6_15_2","first-page":"298","article-title":"De ladeno\u2010lipomatose symetrique","volume":"1","author":"Lanois PE","year":"1898","journal-title":"Bull Mem Soc Med Hosp (Paris)"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1524-4725.2003.29056.x"},{"key":"e_1_2_6_17_2","first-page":"106","article-title":"Uber den fetthals (diffuses lipom des halses)","volume":"37","author":"Madelung OW","year":"1888","journal-title":"Archiv Klin Chir"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-4362.1999.00743.x"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(200004)23:4<538::AID-MUS12>3.0.CO;2-T"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199707)20:7<833::AID-MUS7>3.0.CO;2-8"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880180704"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/path.1212"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/111.5.1157"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(87)70253-9"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2000.03757.x"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1159\/000246052"},{"key":"e_1_2_6_27_2","first-page":"193","article-title":"Multiple familial lipomatosis with polyneuropathy, an inherited dominant condition","volume":"39","author":"Stoll C","year":"1996","journal-title":"Ann Genet"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(00)90230-5"},{"key":"e_1_2_6_29_2","first-page":"145","article-title":"Sporadic multiple lipomatosis: a case report and review of the literature","volume":"90","author":"Wilson D","year":"1994","journal-title":"W V Med J"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.20406","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.20406","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T04:45:51Z","timestamp":1696913151000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.20406"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,7,8]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,1]]}},"alternative-id":["10.1002\/mus.20406"],"URL":"https:\/\/doi.org\/10.1002\/mus.20406","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,7,8]]}}}