{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T12:50:02Z","timestamp":1781095802453,"version":"3.54.1"},"reference-count":0,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,2,24]],"date-time":"2007-02-24T00:00:00Z","timestamp":1172275200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Leigh syndrome is the most common mitochondrial disorder in children characterized by necrotic lesions in the central nervous system. Both mitochondrial DNA (mtDNA) and nuclear DNA defects in the mitochondrial respiratory chain can lead to this disease. To characterize the clinical and genetic traits of Leigh or Leigh\u2010like syndrome patients in China, 124 unrelated cases were collected between 1992 and 2005. Seventy\u2010seven cases (62.1%) met the typical criteria of Leigh syndrome, including symmetrical bilateral abnormal signals in the basal ganglia, thalamus and brain stem, etc. Other cases (37.9%) belonged to Leigh\u2010like syndrome with atypical clinical or radiological manifestations. Late\u2010onset patients accounted for 20.2%, which is more than previously reported. Movement disorder was the most common symptoms in our patients. Thirty\u2010two patients (25.8%) were confirmed to carry mutant genes. Among them, six cases (4.8%) have been demonstrated to have point mutations in mitochondrial DNA. Two separate patients were detected to have mutations on A8344G and A3243G. The T8993G point mutation was identified in one patient and T8993C in one other patient. <jats:italic>SURF1<\/jats:italic> mutations associated with cytochrome\u2010<jats:italic>c<\/jats:italic> oxidase deficiency were identified in 25 patients (20.2%). Four unreported variations have been identified in <jats:italic>SURF1<\/jats:italic> gene from three patients. G604C was found in 22 patients. Only one patient had C214T mutation in the pyruvate dehydrogenase E1\u03b1 subunit gene. In the remaining 92 patients (74.2%), a specific molecular dysfunction or underlying metabolic abnormality could not be identified.<\/jats:p>","DOI":"10.1007\/s10545-006-0481-y","type":"journal-article","created":{"date-parts":[[2007,2,24]],"date-time":"2007-02-24T14:33:25Z","timestamp":1172327605000},"page":"265-265","source":"Crossref","is-referenced-by-count":28,"title":["Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh\u2010like syndrome"],"prefix":"10.1002","volume":"30","author":[{"given":"Y.","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y. L.","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Qian","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z. X.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Qi","sequence":"additional","affiliation":[{"name":"Central Lab Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. X.","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Medical Radiology Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X. Y.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Radiology Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y. H.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y. W.","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Qin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X. R.","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,2,24]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0481-y","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0481-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:06:11Z","timestamp":1694750771000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0481-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2,24]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,4]]}},"alternative-id":["10.1007\/s10545-006-0481-y"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0481-y","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,2,24]]}}}