{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T14:03:54Z","timestamp":1771941834203,"version":"3.50.1"},"reference-count":27,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2026,3]]},"DOI":"10.1016\/j.ymgme.2026.109767","type":"journal-article","created":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T15:45:40Z","timestamp":1770565540000},"page":"109767","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rhabdomyolysis due to mtDNA pathogenic variants: Report of a subject with a novel MT-CO3 variant and review of the literature"],"prefix":"10.1016","volume":"147","author":[{"given":"Emanuele","family":"Barca","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuri","family":"Jacoby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Naini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael L.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Emmanuele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher J.","family":"Winfree","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saba","family":"Tadesse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kurenai","family":"Tanji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michio","family":"Hirano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2026.109767_bb0005","series-title":"StatPearls","article-title":"Rhabdomyolysis","author":"Stanley","year":"2025"},{"issue":"10","key":"10.1016\/j.ymgme.2026.109767_bb0010","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s11910-015-0590-9","article-title":"Metabolic myoglobinuria","volume":"15","author":"Barca","year":"2015","journal-title":"Curr. Neurol. Neurosci. Rep."},{"issue":"14","key":"10.1016\/j.ymgme.2026.109767_bb0015","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1056\/NEJM199909303411404","article-title":"Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA","volume":"341","author":"Andreu","year":"1999","journal-title":"N. Engl. J. Med."},{"issue":"6","key":"10.1016\/j.ymgme.2026.109767_bb0020","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1002\/1531-8249(199906)45:6<820::AID-ANA22>3.0.CO;2-W","article-title":"Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene","volume":"45","author":"Andreu","year":"1999","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2026.109767_bb0025","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2012-006980","article-title":"Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation","volume":"2012","author":"Czell","year":"2012","journal-title":"BMJ Case Rep."},{"key":"10.1016\/j.ymgme.2026.109767_bb0030","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1007\/978-1-4614-3573-0_14","article-title":"The many clinical faces of cytochrome c oxidase deficiency","volume":"748","author":"DiMauro","year":"2012","journal-title":"Adv. Exp. Med. Biol."},{"issue":"2","key":"10.1016\/j.ymgme.2026.109767_bb0035","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1007\/s11910-010-0096-4","article-title":"A diagnostic algorithm for metabolic myopathies","volume":"10","author":"Berardo","year":"2010","journal-title":"Curr. Neurol. Neurosci. Rep."},{"issue":"6","key":"10.1016\/j.ymgme.2026.109767_bb0040","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1006\/scdb.2001.0280","article-title":"Neuropathological features of mitochondrial disorders","volume":"12","author":"Tanji","year":"2001","journal-title":"Semin. Cell Dev. Biol."},{"issue":"2","key":"10.1016\/j.ymgme.2026.109767_bb0045","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1093\/labmed\/lmad063","article-title":"Droplet digital polymerase chain reaction to measure heteroplasmic m.3243A>G mitochondrial mutations","volume":"55","author":"Matsumoto","year":"2024","journal-title":"Lab. Med."},{"issue":"2","key":"10.1016\/j.ymgme.2026.109767_bb0050","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/0005-2728(81)90175-4","article-title":"Inhibition of cytochrome c oxidase function by dicyclohexylcarbodiimide","volume":"637","author":"Prochaska","year":"1981","journal-title":"Biochim. Biophys. Acta"},{"issue":"2","key":"10.1016\/j.ymgme.2026.109767_bb0055","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/mus.20688","article-title":"Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders","volume":"35","author":"Rodriguez","year":"2007","journal-title":"Muscle Nerve"},{"issue":"2","key":"10.1016\/j.ymgme.2026.109767_bb0060","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.jocn.2010.06.001","article-title":"Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis","volume":"18","author":"Marotta","year":"2011","journal-title":"J. Clin. Neurosci."},{"issue":"4","key":"10.1016\/j.ymgme.2026.109767_bb0065","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1038\/ng0496-410","article-title":"A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria","volume":"12","author":"Keightley","year":"1996","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.ymgme.2026.109767_bb0070","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1093\/jnen\/64.2.123","article-title":"Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I","volume":"64","author":"Kollberg","year":"2005","journal-title":"J. Neuropathol. Exp. Neurol."},{"issue":"5","key":"10.1016\/j.ymgme.2026.109767_bb0075","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1212\/WNL.55.5.644","article-title":"Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA","volume":"55","author":"Karadimas","year":"2000","journal-title":"Neurology"},{"issue":"20","key":"10.1016\/j.ymgme.2026.109767_bb0080","doi-asserted-by":"crossref","first-page":"1908","DOI":"10.1212\/WNL.0b013e3182929fb2","article-title":"Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene","volume":"80","author":"Vissing","year":"2013","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.ymgme.2026.109767_bb0085","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.nmd.2003.10.011","article-title":"A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis","volume":"14","author":"McFarland","year":"2004","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ymgme.2026.109767_bb0090","first-page":"65","article-title":"Exercise intolerance and Myoglobinuria associated with a novel maternally inherited MT-ND1 mutation","volume":"25","author":"Rafiq","year":"2016","journal-title":"JIMD Rep."},{"issue":"1","key":"10.1016\/j.ymgme.2026.109767_bb0095","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/s12887-020-1912-x","article-title":"Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I","volume":"20","author":"Danhelovska","year":"2020","journal-title":"BMC Pediatr."},{"issue":"6","key":"10.1016\/j.ymgme.2026.109767_bb0100","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1086\/316900","article-title":"Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene","volume":"67","author":"Keightley","year":"2000","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.ymgme.2026.109767_bb0105","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1002\/ana.410410319","article-title":"A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis","volume":"41","author":"Chinnery","year":"1997","journal-title":"Ann. Neurol."},{"issue":"1\u20132","key":"10.1016\/j.ymgme.2026.109767_bb0110","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.jns.2011.01.018","article-title":"Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation","volume":"303","author":"Emmanuele","year":"2011","journal-title":"J. Neurol. Sci."},{"issue":"5","key":"10.1016\/j.ymgme.2026.109767_bb0115","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1203\/01.PDR.0000117844.73436.68","article-title":"A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality","volume":"55","author":"Crimi","year":"2004","journal-title":"Pediatr. Res."},{"issue":"21","key":"10.1016\/j.ymgme.2026.109767_bb0120","doi-asserted-by":"crossref","first-page":"2773","DOI":"10.2169\/internalmedicine.4922-20","article-title":"A MELAS patient developing fatal acute renal failure with lactic acidosis and rhabdomyolysis","volume":"59","author":"Ito","year":"2020","journal-title":"Intern. Med."},{"issue":"4","key":"10.1016\/j.ymgme.2026.109767_bb0125","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000082","article-title":"Pathogenic mtDNA mutations causing mitochondrial myopathy: the need for muscle biopsy","volume":"2","author":"Hardy","year":"2016","journal-title":"Neurol. Genet."},{"issue":"6","key":"10.1016\/j.ymgme.2026.109767_bb0130","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1007\/s10545-012-9465-2","article-title":"Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation","volume":"35","author":"de Laat","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"issue":"12","key":"10.1016\/j.ymgme.2026.109767_bb0135","doi-asserted-by":"crossref","first-page":"5250","DOI":"10.1167\/iovs.08-2193","article-title":"Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities","volume":"49","author":"Bosley","year":"2008","journal-title":"Invest. Ophthalmol. Vis. Sci."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719226000508?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719226000508?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T13:11:37Z","timestamp":1771938697000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719226000508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["S1096719226000508"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2026.109767","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Rhabdomyolysis due to mtDNA pathogenic variants: Report of a subject with a novel MT-CO3 variant and review of the literature","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2026.109767","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"109767"}}