{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T07:40:46Z","timestamp":1770622846856,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2778,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1997,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a patient who presented with acute rhabdomyolysis and had 68% cytochrome <jats:italic>c<\/jats:italic> oxidase (COX)\u2010deficient fibers in skeletal muscle. Further investigations confirmed a respiratory chain defect that was associated with a novel heteroplasmic point mutation in the phenylalanine tRNA gene of the mitochondrial genome (mtDNA). Analysis of single muscle fibers revealed a significantly greater level of mutant mtDNA in COX\u2010negative fibers. This is the first case of a mitochondrial tRNA gene point mutation presenting with acute rhabdomyolysis and recurrent myoglobinuria.<\/jats:p>","DOI":"10.1002\/ana.410410319","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:57:05Z","timestamp":1104591425000},"page":"408-410","source":"Crossref","is-referenced-by-count":37,"title":["A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis"],"prefix":"10.1002","volume":"41","author":[{"given":"P. F.","family":"Chinnery","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. A.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. N.","family":"Lightowlers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. M.","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","volume-title":"Disorders of voluntary muscle","author":"Walton J","year":"1994"},{"key":"e_1_2_1_3_2","volume-title":"Myology","author":"Penn AS","year":"1994"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410270214"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.7.2379"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.12.1545-a"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(94)00071-G"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-410"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410290406"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330106"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4115.929"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.3_Part_1.467"},{"key":"e_1_2_1_14_2","doi-asserted-by":"crossref","first-page":"r1","DOI":"10.1093\/nar\/17.suppl.r1","article-title":"Compilation of tRNA sequences and sequences of tRNA genes","volume":"17","author":"Sprintzl M","year":"1989","journal-title":"Nucleic Acid Res"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)90136-D"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116913"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410410319","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410410319","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T10:19:39Z","timestamp":1698401979000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410410319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,3]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1997,3]]}},"alternative-id":["10.1002\/ana.410410319"],"URL":"https:\/\/doi.org\/10.1002\/ana.410410319","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,3]]}}}