{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T06:23:35Z","timestamp":1782541415092,"version":"3.54.5"},"reference-count":24,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2013,1,9]],"date-time":"2013-01-09T00:00:00Z","timestamp":1357689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:p>The authors describe a newborn with postnatal myopathy who subsequently developed feeding difficulties, ophthalmoplegia, ptosis, encephalopathy, and seizures. She became ventilator dependent after sudden apnea. The myopathy was without ragged red fibers in the muscle biopsy. An electron transport chain study showed a markedly generalized low level of enzyme activity, particularly in complexes I, I + III, and IV. An initial electroencephalogram finding was normal; subsequent electroencephalograms showed suppression bursts. The mitochondrial copy number in skeletal muscle was 2% of normal.<\/jats:p>","DOI":"10.1177\/0883073812469722","type":"journal-article","created":{"date-parts":[[2013,1,10]],"date-time":"2013-01-10T21:39:47Z","timestamp":1357853987000},"page":"404-408","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":11,"title":["Mitochondrial Depletion Causes Neonatal-Onset Leigh Syndrome, Myopathy, and Renal Tubulopathy"],"prefix":"10.1177","volume":"28","author":[{"given":"Inn-Chi","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan"},{"name":"Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ni-Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jang-Jih","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Linkou Chang-Gung Memorial Hospital, Taoyuan, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pen-Hua","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan"},{"name":"Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2013,1,9]]},"reference":[{"key":"bibr1-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.14.3.216"},{"key":"bibr2-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390311"},{"key":"bibr3-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1038\/3804"},{"key":"bibr4-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010203"},{"key":"bibr5-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20807"},{"key":"bibr6-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200110000-00002"},{"key":"bibr7-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2010.01.002"},{"key":"bibr8-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1002"},{"key":"bibr9-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1038\/ng2040"},{"key":"bibr10-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl389"},{"key":"bibr11-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl383"},{"key":"bibr12-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1002\/hep.21799"},{"key":"bibr13-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2009.141549"},{"key":"bibr14-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2009.139"},{"key":"bibr15-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.009"},{"key":"bibr16-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.08.002"},{"key":"bibr17-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn236"},{"key":"bibr18-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1177\/08830738050200080701"},{"key":"bibr19-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2005.10.020"},{"key":"bibr20-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30972"},{"issue":"6","key":"bibr21-0883073812469722","first-page":"1188","volume":"24","author":"Rossi A","year":"2003","journal-title":"Am J Neuroradiol"},{"key":"bibr22-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000082391.98672.0A"},{"key":"bibr23-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700318"},{"key":"bibr24-0883073812469722","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3206"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812469722","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073812469722","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812469722","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:43Z","timestamp":1777495063000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073812469722"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,9]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["10.1177\/0883073812469722"],"URL":"https:\/\/doi.org\/10.1177\/0883073812469722","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,9]]}}}