{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T07:42:42Z","timestamp":1761896562253,"version":"3.40.4"},"reference-count":8,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2017,5,11]]},"abstract":"<jats:p>Madelung\u2019s disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung\u2019s disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m.8344A&gt;G mutation in MT-TK gene, related MERRF (myoclonic epilepsy with ragged-red fibre) phenotype and m.14484T&gt;C mutation in the MT-ND6 gene responsible for Leber hereditary optic neuropathy phenotype.<\/jats:p>","DOI":"10.1136\/bcr-2016-218861","type":"journal-article","created":{"date-parts":[[2017,6,19]],"date-time":"2017-06-19T16:25:10Z","timestamp":1497889510000},"page":"bcr-2016-218861","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Beyond cervical lipomas: myoclonus, gait disorder and multisystem involvement leading to mitochondrial disease"],"prefix":"10.1136","volume":"2017","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2673-841X","authenticated-orcid":false,"given":"Roberto","family":"L\u00f3pez-Blanco","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Rojo-Sebasti\u00e1n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Henedina","family":"Torregrosa-Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Blazquez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2017,6,19]]},"reference":[{"key":"2025042712004900000_2017.jun18_1.bcr-2016-218861.1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20406"},{"key":"2025042712004900000_2017.jun18_1.bcr-2016-218861.2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.1.258"},{"key":"2025042712004900000_2017.jun18_1.bcr-2016-218861.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMicm1503861"},{"key":"2025042712004900000_2017.jun18_1.bcr-2016-218861.4","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318294b44c"},{"key":"2025042712004900000_2017.jun18_1.bcr-2016-218861.5","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1007\/s00415-016-8086-3","article-title":"Expanded phenotypic spectrum of the m.8344>G \"MERRF\" mutation: data from the German mitoNET registry","volume":"263","author":"Altmann","year":"2016","journal-title":"J Neurol"},{"key":"2025042712004900000_2017.jun18_1.bcr-2016-218861.6","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0146816","article-title":"Functional characterization of three concomitant MtDNA LHON mutations shows no synergistic effect on mitochondrial activity","volume":"11","author":"Cruz-Berm\u00fadez","year":"2016","journal-title":"PLoS One"},{"key":"2025042712004900000_2017.jun18_1.bcr-2016-218861.7","doi-asserted-by":"crossref","first-page":"572","DOI":"10.3109\/19401736.2013.878901","article-title":"Retrospective assessment of the most common mitochondrial DNA mutations in a large hungarian cohort of suspect mitochondrial cases","volume":"26","author":"Remenyi","year":"2015","journal-title":"Mitochondrial DNA"},{"key":"2025042712004900000_2017.jun18_1.bcr-2016-218861.8","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0158-9"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2016-218861","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T19:00:59Z","timestamp":1745780459000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2016-218861"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,19]]},"references-count":8,"alternative-id":["10.1136\/bcr-2016-218861"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2016-218861","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2017,6,19]]}}}