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ATP6 gene encodes one subunit of complex\u2164. The present study described a missense mutation in ATP6 gene in a 8\u2010year\u2010old Chinese boy with mitochondrial encephalomyopathy. We identified one missense mutation in ATP6 gene (m.8914C&gt;T) by mitochondrial DNA sequencing. This mutation altered the amino acid proline in serine, and alterative protein is predicted to be harmful. The mutation load in blood sample of patient is 59.49%. Activity of all mitochondrial complexes in blood are normal, however, the total function of mitochondrial oxidative phosphorylation were declined (including pathway\u2160, pathway\u2161 and pathway\u2163). The missense mutation (m.8914C&gt;T) in ATP6 gene could result in abnormal function of complexV and is related with mitochondrial encephalomyopathy.<\/jats:p>","DOI":"10.1016\/j.ijdevneu.2018.09.007","type":"journal-article","created":{"date-parts":[[2018,9,28]],"date-time":"2018-09-28T18:07:11Z","timestamp":1538158031000},"page":"172-174","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["The biochemical characterization of a missense mutation m.8914C&gt;T in <i>ATP6<\/i> gene associated with mitochondrial encephalomyopathy"],"prefix":"10.1002","volume":"71","author":[{"given":"Ya","family":"Guo","sequence":"first","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Ophthalmology Department of Qingdao Municipal Hospital No. 1 Jiaozhou Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Li","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peipei","family":"Liu","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yedan","family":"Liu","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengqing","family":"Yang","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Song","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na","family":"Zhang","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zongbo","family":"Chen","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,9,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.06-0295"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1209094"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.06.004"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.5.687"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(95)00184-H"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.12.066"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcvm.2016.00025"},{"key":"e_1_2_9_9_1","first-page":"428","article-title":"A new mitochondrial disease associated with mitochondrial DNA heteroplasmy","volume":"46","author":"Holt I.J.","year":"1990","journal-title":"Am. 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