{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:49:21Z","timestamp":1790430561088,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,5,25]],"date-time":"2001-05-25T00:00:00Z","timestamp":990748800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2001,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 42\u2010year\u2010old man who presented with a progressive history of epilepsy, stroke\u2010like episodes, bilateral optic atrophy, and cognitive decline. Investigation of his muscle biopsy revealed a specific defect in complex I activity. Subsequent analysis of the mitochondrial genome identified a novel heteroplasmic T10191C mutation in the ND3 gene. The mutation was present at lower levels in blood from the patient and unaffected maternal relatives and is the first pathogenic mitochondrial DNA mutation in the ND3 gene to be described.<\/jats:p>","DOI":"10.1002\/ana.1084","type":"journal-article","created":{"date-parts":[[2002,9,11]],"date-time":"2002-09-11T01:23:48Z","timestamp":1031707428000},"page":"104-107","source":"Crossref","is-referenced-by-count":85,"title":["Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene"],"prefix":"10.1002","volume":"50","author":[{"given":"Robert W.","family":"Taylor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajinder","family":"Singh\u2010Kler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Hayes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip E.M.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglass M.","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,5,25]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.3201231"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)90244-1"},{"key":"e_1_2_7_4_2","first-page":"X","article-title":"Mitochondrial encephalomyopathies: gene mutation","volume":"10","author":"Servidei S","year":"2000","journal-title":"Neuromusc Disord"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022690030664"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.13.6206"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1997.7166"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1997.7167"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199912)46:6<916::AID-ANA16>3.0.CO;2-R"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199906)45:6<820::AID-ANA22>3.0.CO;2-W"},{"key":"e_1_2_7_11_2","volume-title":"Organelle diseases","author":"Taylor RW","year":"1997"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<498::AID-AJMG13>3.0.CO;2-8"},{"key":"e_1_2_7_13_2","first-page":"1187","article-title":"Distribution and threshold expression of the tRNALys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged\u2010red fibers (MERRF)","volume":"51","author":"Boulet L","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/13779"},{"key":"e_1_2_7_15_2","unstructured":"MITOMAP: a human mitochondrial genome database. 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