{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:32:02Z","timestamp":1783488722905,"version":"3.55.0"},"reference-count":20,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2010,4,1]],"date-time":"2010-04-01T00:00:00Z","timestamp":1270080000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2010,4]]},"DOI":"10.1016\/j.jns.2010.01.012","type":"journal-article","created":{"date-parts":[[2010,2,10]],"date-time":"2010-02-10T09:22:32Z","timestamp":1265793752000},"page":"17-21","source":"Crossref","is-referenced-by-count":21,"title":["Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families"],"prefix":"10.1016","volume":"291","author":[{"given":"Yinan","family":"Ma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanyan","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanling","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liping","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Songtao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sainan","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufeng","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei","family":"Pei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Qi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2010.01.012_bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1600-0404.2007.00836.x","article-title":"Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation","volume":"116","author":"Finsterer","year":"2007","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.jns.2010.01.012_bib2","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/0960-8966(93)90040-Q","article-title":"Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA","volume":"3","author":"Moraes","year":"1993","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jns.2010.01.012_bib3","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/j.braindev.2004.01.002","article-title":"Clinical features of A3243G mitochondrial tRNA mutation","volume":"26","author":"Chae","year":"2004","journal-title":"Brain"},{"key":"10.1016\/j.jns.2010.01.012_bib4","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/j.mito.2004.07.009","article-title":"The neurological presentations of childhood and adult mitochondrial disease: established syndromes and phenotypic variations","volume":"4","author":"Gropman","year":"2004","journal-title":"Mitochondrion"},{"key":"10.1016\/j.jns.2010.01.012_bib5","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/S0140-6736(06)68970-8","article-title":"Mitochondrial disease","volume":"368","author":"Schapira","year":"2006","journal-title":"Lancet"},{"key":"10.1016\/j.jns.2010.01.012_bib6","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/S1357-4310(00)01805-0","article-title":"Mitochondrial DNA mutations in the pathogenesis of human disease","volume":"6","author":"Chinnery","year":"2000","journal-title":"Mol Med Today"},{"key":"10.1016\/j.jns.2010.01.012_bib7","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.tibs.2003.09.006","article-title":"Impact of disease-related mitochondrial mutations on tRNA structure and function","volume":"28","author":"Wittenhagen","year":"2003","journal-title":"Trends Biochem Sci"},{"key":"10.1016\/j.jns.2010.01.012_bib8","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1002\/ana.21196","article-title":"Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children","volume":"62","author":"Uusimaa","year":"2007","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jns.2010.01.012_bib9","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1212\/WNL.49.5.1331","article-title":"The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct","volume":"49","author":"Majamaa","year":"1997","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2010.01.012_bib10","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cell","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jns.2010.01.012_bib11","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/S0168-9525(00)88977-5","article-title":"An inexpensive alternative to glassmilk for DNA purification","volume":"11","author":"Boyle","year":"1995","journal-title":"Trends Genet"},{"key":"10.1016\/j.jns.2010.01.012_bib12","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1196\/annals.1444.011","article-title":"Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome","volume":"1142","author":"Sproule","year":"2008","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.jns.2010.01.012_bib13","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1007\/s001250051316","article-title":"Clinical relevance of heteroplasmic concentration of mitochondrial A3243G mutation in leukocytes","volume":"42","author":"Asano","year":"1999","journal-title":"Diabetologia"},{"key":"10.1016\/j.jns.2010.01.012_bib14","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1136\/jmg.2005.039339","article-title":"Tissue specific distribution of the 3243A->G mtDNA mutation","volume":"43","author":"Frederiksen","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.jns.2010.01.012_bib15","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1177\/088307389400900102","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts","volume":"9","author":"Hirano","year":"1994","journal-title":"J Child Neurol"},{"key":"10.1016\/j.jns.2010.01.012_bib16","first-page":"61","article-title":"Overview on visceral manifestations of mitochondrial disorders","volume":"64","author":"Finsterer","year":"2006","journal-title":"Neth J Med"},{"key":"10.1016\/j.jns.2010.01.012_bib17","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1016\/j.braindev.2007.12.006","article-title":"Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy","volume":"30","author":"Chiyonobu","year":"2008","journal-title":"Brain Dev"},{"key":"10.1016\/j.jns.2010.01.012_bib18","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1038\/sj.ejhg.5201216","article-title":"Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells","volume":"12","author":"McDonnell","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jns.2010.01.012_bib19","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.mito.2009.01.004","article-title":"The study of mitochondrial A3243G mutation in different samples","volume":"9","author":"Ma","year":"2009","journal-title":"Mitochondrion"},{"key":"10.1016\/j.jns.2010.01.012_bib20","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1093\/brain\/121.10.1889","article-title":"The relationship between maternal mutation load and the frequency of clinically affected offspring","volume":"121","author":"Chinnery PF","year":"1998","journal-title":"Brain"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X10000389?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X10000389?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,13]],"date-time":"2018-12-13T09:29:47Z","timestamp":1544693387000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X10000389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4]]},"references-count":20,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["S0022510X10000389"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2010.01.012","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2010,4]]}}}