{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T12:11:17Z","timestamp":1770639077429,"version":"3.49.0"},"reference-count":8,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes comprises a number of mitochondrial disorders with a wide range of clinical presentations. We present the case of a 32-year-old patient with an m.3243A&gt;T mitochondrial DNA mutation who presented with rhabdomyolysis after 2\u2005days of excessive physical work. The case presented here demonstrates a new clinical phenotype associated with this pathogenic mtDNA mutation.<\/jats:p>","DOI":"10.1136\/bcr-2012-006980","type":"journal-article","created":{"date-parts":[[2012,12,6]],"date-time":"2012-12-06T07:48:43Z","timestamp":1354780123000},"page":"bcr2012006980","source":"Crossref","is-referenced-by-count":6,"title":["Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A&gt;T mtDNA mutation"],"prefix":"10.1136","volume":"2012","author":[{"given":"David","family":"Czell","sequence":"first","affiliation":[{"name":"Neuromuscular Diseases Unit\/ALS Clinic, Kantonsspital St. Gallen, St.Gallen, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Abicht","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, Munich, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Hench","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Institute of Pathology, Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Weber","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit\/ALS Clinic, Kantonsspital St. Gallen, St.Gallen, Switzerland"},{"name":"Department of Neurology, University Hospital Basel, Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2012,12,6]]},"reference":[{"key":"2025082803061891000_2012.dec06_1.bcr2012006980.1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1606"},{"key":"2025082803061891000_2012.dec06_1.bcr2012006980.2","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/ana.410160409","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome","volume":"16","author":"Pavlakis","year":"1994","journal-title":"Ann Neurol"},{"key":"2025082803061891000_2012.dec06_1.bcr2012006980.3","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1997.6496"},{"key":"2025082803061891000_2012.dec06_1.bcr2012006980.4","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/ajmg.a.31841","article-title":"Progressive cerebral vascular de generation with mitochondrial encephalopathy","volume":"46","author":"Longo","year":"2008","journal-title":"Am J Med Genet"},{"key":"2025082803061891000_2012.dec06_1.bcr2012006980.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.04.003"},{"key":"2025082803061891000_2012.dec06_1.bcr2012006980.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00019-X"},{"key":"2025082803061891000_2012.dec06_1.bcr2012006980.7","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(93)90129-D"},{"key":"2025082803061891000_2012.dec06_1.bcr2012006980.8","doi-asserted-by":"publisher","DOI":"10.1159\/000072517"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2012-006980","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:06:29Z","timestamp":1756375589000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2012-006980"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12,6]]},"references-count":8,"alternative-id":["10.1136\/bcr-2012-006980"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2012-006980","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12,6]]}}}