{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T08:12:15Z","timestamp":1694765535613},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,3,8]],"date-time":"2016-03-08T00:00:00Z","timestamp":1457395200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Succinate\u2010CoA ligase, ADP\u2010forming, beta subunit (SUCLA2)\u2010related mitochondrial DNA depletion syndrome is caused by mutations affecting the ADP\u2010using isoform of the beta subunit in succinyl\u2010CoA synthase, which is involved in the Krebs cycle. The SUCLA2 protein is found mostly in heart, skeletal muscle, and brain tissues. SUCLA2 mutations result in a mitochondrial disorder that manifests as deafness, lesions in the basal ganglia, and encephalomyopathy accompanied by dystonia. Such mutations are generally associated with mildly increased plasma methylmalonic acid, increased plasma lactate, elevated plasma carnitine esters, and the presence of methylmalonic acid in urine. In this case report, we describe a new mutation in a patient with a succinyl\u2010CoA synthase deficiency caused by an <jats:italic>SUCLA2<\/jats:italic> defect.<\/jats:p>","DOI":"10.1111\/ped.12921","type":"journal-article","created":{"date-parts":[[2016,3,8]],"date-time":"2016-03-08T10:12:42Z","timestamp":1457431962000},"page":"659-661","source":"Crossref","is-referenced-by-count":3,"title":["Novel mutation in <i>SUCLA2<\/i> identified on sequencing analysis"],"prefix":"10.1111","volume":"58","author":[{"given":"Olcay","family":"G\u00fcng\u00f6r","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Faculty of Medicine, Kahramanmaras Sutcu Imam University  Kahramanmaras Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet Ka\u011fan","family":"\u00d6zkaya","sequence":"additional","affiliation":[{"name":"Department of Pediatric Emergency Faculty of Medicine, Cukurova University  Adana Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fclay","family":"G\u00fcng\u00f6r","sequence":"additional","affiliation":[{"name":"Department of Radiology Necip Faz\u0131l City Hospital  Kahramanmaras Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kadri","family":"Karaer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Dr Ersin Arslan State Hospital  Gaziantep Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cengiz","family":"Dilber","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Faculty of Medicine, Kahramanmaras Sutcu Imam University  Kahramanmaras Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u00fcr\u015fad","family":"Aydin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Faculty of Medicine, Gazi University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,3,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.08.020"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm023"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.45"},{"key":"e_1_2_6_5_1","first-page":"817","article-title":"SUCLA2\u2010related encephalomyopathic mitochondrial DNA depletion syndrome: A case report and review of literature","volume":"52","author":"Liu Z","year":"2014","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814527158"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl383"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/430843"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2009.08.003"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0828-7"},{"key":"e_1_2_6_11_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Ostergaard E","year":"1993"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12921","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12921","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12921","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T02:24:44Z","timestamp":1694658284000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12921"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,8]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1111\/ped.12921"],"URL":"https:\/\/doi.org\/10.1111\/ped.12921","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,8]]}}}