{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:06:48Z","timestamp":1790276808853,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,10,25]],"date-time":"2013-10-25T00:00:00Z","timestamp":1382659200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Mitochondrial trifunctional protein deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid \u03b2\u2010oxidation that may be due to mutations in 2 different nuclear genes, <jats:italic>HADHA<\/jats:italic> and <jats:italic>HADHB<\/jats:italic>. Perturbation of this multienzyme complex compromises the oxidation of long\u2010chain fatty acids, which leads to multiorgan dysfunction. Childhood\u2010 or adolescent\u2010onset recurrent rhabdomyolysis is a common muscular manifestation and is preceded frequently by clinically overt peripheral neuropathy. <jats:italic>Methods<\/jats:italic>: In this report we describe a patient with late adult\u2010onset recurrent rhabdomyolysis. <jats:italic>Results<\/jats:italic>: Despite normal sensory examination, nerve conduction studies showed a mild axonal peripheral neuropathy. The acylcarnitine profile showed elevated long\u2010chain and 3\u2010hydroxy long\u2010chain acylcarnitine species. <jats:italic>HADHA<\/jats:italic> sequencing revealed known compound heterozygous mutations c.180+3A&gt;G (p.Thr37SerfsX6) and c.1528G&gt;C (p.Glu510Gln). During a 10\u2010month follow\u2010up period, he had no further episodes of rhabdomyolysis after appropriate dietary modifications. <jats:italic>Conclusions<\/jats:italic>: Mitochondrial trifunctional protein deficiency should be considered in patients with adult\u2010onset recurrent rhabdomyolysis, especially in those with either clinically overt or subclinical peripheral neuropathy. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>48<\/jats:bold>: 989\u2013991, 2013<\/jats:p>","DOI":"10.1002\/mus.23959","type":"journal-article","created":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T10:38:10Z","timestamp":1374230290000},"page":"989-991","source":"Crossref","is-referenced-by-count":17,"title":["Mitochondrial trifunctional protein deficiency: A rare cause of adult\u2010onset rhabdomyolysis"],"prefix":"10.1002","volume":"48","author":[{"given":"Teerin","family":"Liewluck","sequence":"first","affiliation":[{"name":"Department of Neurology Mayo Clinic College of Medicine 200 First Street SW Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manpreet S.","family":"Mundi","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine Mayo Clinic College of Medicine Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle L.","family":"Mauermann","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic College of Medicine 200 First Street SW Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,25]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.04.006"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117894"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2760(94)90064-7"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04320.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-010-0096-4"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.06.018"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181614289"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10500"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.3.841"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9090-x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00073-8"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005673828469"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.23959","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.23959","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.23959","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T19:23:59Z","timestamp":1696361039000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.23959"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,25]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1002\/mus.23959"],"URL":"https:\/\/doi.org\/10.1002\/mus.23959","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,25]]}}}