{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:01:24Z","timestamp":1791097284678,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,12,31]],"date-time":"2002-12-31T00:00:00Z","timestamp":1041292800000},"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":[[2003,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We identified two novel heteroplasmic mitochondrial DNA point mutations in the gene encoding the ND5 subunit of complex I: a 12770A\u2192G transition identified in a patient with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke\u2010like episodes) and a 13045A\u2192C transversion in a patient with a MELAS\/Leber's hereditary optic neuropathy\/Leigh's overlap syndrome. Biochemical analysis of muscle homogenates showed normal or very mildly reduced complex I activity. Histochemistry was normal. Our observations add to the evidence that mitochondrial ND5 protein coding gene mutations frequently associate with the MELAS phenotype, and it highlights the role of complex I dysfunction in MELAS. Ann Neurol 2003<\/jats:p>","DOI":"10.1002\/ana.10435","type":"journal-article","created":{"date-parts":[[2003,1,29]],"date-time":"2003-01-29T15:35:29Z","timestamp":1043854529000},"page":"128-132","source":"Crossref","is-referenced-by-count":105,"title":["Is the mitochondrial complex I ND5 gene a hot\u2010spot for MELAS causing mutations?"],"prefix":"10.1002","volume":"53","author":[{"given":"Danae","family":"Liolitsa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shamina","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Benton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucinda J.","family":"Carr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael G.","family":"Hanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,12,31]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1997.7167"},{"key":"e_1_2_5_3_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_5_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.2.317"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200101)49:1<106::AID-ANA16>3.0.CO;2-T"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s000180050327"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1086\/301910"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200773"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.2000.3509"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022685929755"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00293-0"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1010791204961"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.3.805-815.2000"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.10435","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.10435","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T10:36:53Z","timestamp":1697193413000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.10435"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,12,31]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,1]]}},"alternative-id":["10.1002\/ana.10435"],"URL":"https:\/\/doi.org\/10.1002\/ana.10435","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,12,31]]}}}