{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T18:14:35Z","timestamp":1791051275949,"version":"4.1.0"},"reference-count":0,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,12,21]],"date-time":"2006-12-21T00:00:00Z","timestamp":1166659200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2007,1]]},"abstract":"<jats:p>We report two male Taiwanese siblings in whom the T\u2192C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T&gt;C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. Brain MRI showed lesions over diffuse white matter and the bilateral posterior limbs of the internal capsule. The m.9176T&gt;C mutation is suggested as the cause of the bilateral striatal necrosis and Leigh syndrome. However, leukodystrophy in Leigh syndrome associated with m.9176T&gt;C mutation has never been reported before. We suggest that m.9176T&gt;C mutation could be a new aetiology for leukodystrophy in children with Leigh syndrome.<\/jats:p>","DOI":"10.1017\/s0012162207000163.x","type":"journal-article","created":{"date-parts":[[2010,7,29]],"date-time":"2010-07-29T22:24:21Z","timestamp":1280442261000},"page":"65-67","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene"],"prefix":"10.1111","volume":"49","author":[{"given":"Po\u2010Cheng","family":"Hung","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huei\u2010Shyong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,12,21]]},"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1017%2FS0012162207000163.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1017\/S0012162207000163.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T13:00:33Z","timestamp":1699966833000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1017\/S0012162207000163.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,21]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,1]]}},"alternative-id":["10.1017\/S0012162207000163.x"],"URL":"https:\/\/doi.org\/10.1017\/s0012162207000163.x","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12,21]]},"assertion":[{"value":"2006-12-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}