{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:22:23Z","timestamp":1790742143448,"version":"4.1.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81701237"],"award-info":[{"award-number":["81701237"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671235"],"award-info":[{"award-number":["81671235"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["16-6-2-1-nsh"],"award-info":[{"award-number":["16-6-2-1-nsh"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010040","name":"Taishan Scholar Project of Shandong Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010040","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010029","name":"Taishan Scholar Foundation of Shandong Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010029","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1016\/j.nmd.2021.02.020","type":"journal-article","created":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T22:28:30Z","timestamp":1614724110000},"page":"558-565","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["A novel nonsense variant in MT-CO3 causes MELAS syndrome"],"prefix":"10.1016","volume":"31","author":[{"given":"Wei","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuebi","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dandan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunqian","family":"Ji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuying","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuanzhu","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2021.02.020_bib0001","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1002\/path.4809","article-title":"The genetics and pathology of mitochondrial disease","volume":"241","author":"Alston","year":"2017","journal-title":"J Pathol"},{"key":"10.1016\/j.nmd.2021.02.020_bib0002","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1042\/CS20150707","article-title":"Mitochondrial cytochrome c oxidase deficiency","volume":"130","author":"Rak","year":"2016","journal-title":"Clin Sci (Lond)"},{"key":"10.1016\/j.nmd.2021.02.020_bib0003","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.mito.2015.07.002","article-title":"The subunit composition and function of mammalian cytochrome c oxidase","volume":"24","author":"Kadenbach","year":"2015","journal-title":"Mitochondrion"},{"key":"10.1016\/j.nmd.2021.02.020_bib0004","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1002\/ajmg.1378","article-title":"Cytochrome c oxidase deficiency","volume":"106","author":"Shoubridge","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nmd.2021.02.020_bib0005","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.semcdb.2017.08.055","article-title":"Mitochondrial cytochrome c oxidase biogenesis: recent developments","volume":"76","author":"Tim\u00f3n-G\u00f3mez","year":"2018","journal-title":"Semin Cell Dev Biol"},{"key":"10.1016\/j.nmd.2021.02.020_bib0006","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/s41431-018-0286-0","article-title":"Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile","volume":"27","author":"Roos","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2021.02.020_bib0007","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.mito.2014.06.003","article-title":"Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene","volume":"17","author":"Debray","year":"2014","journal-title":"Mitochondrion"},{"key":"10.1016\/j.nmd.2021.02.020_bib0008","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.semcdb.2017.07.021","article-title":"Respiratory chain supercomplexes: structures, function and biogenesis","volume":"76","author":"Lobo-Jarne","year":"2018","journal-title":"Semin Cell Dev Biol"},{"key":"10.1016\/j.nmd.2021.02.020_bib0009","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.mito.2019.02.004","article-title":"Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1","volume":"47","author":"Poole","year":"2019","journal-title":"Mitochondrion"},{"key":"10.1016\/j.nmd.2021.02.020_bib0010","doi-asserted-by":"crossref","first-page":"1.23.1","DOI":"10.1002\/0471250953.bi0123s44","article-title":"mtDNA variation and analysis using mitomap and mitomaster","volume":"44","author":"Lott","year":"2013","journal-title":"Curr Protoc Bioinformatics"},{"key":"10.1016\/j.nmd.2021.02.020_bib0011","first-page":"116","article-title":"MELAS syndrome: clinical manifestations, pathogenesis, and treatment options","author":"El-Hattab","year":"2015","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2021.02.020_bib0012","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1086\/301910","article-title":"Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA","volume":"63","author":"Hanna","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2021.02.020_bib0013","doi-asserted-by":"crossref","first-page":"354","DOI":"10.3858\/emm.2008.40.3.354","article-title":"A MELAS syndrome family harboring two mutations in mitochondrial genome","volume":"40","author":"Choi","year":"2008","journal-title":"Exp Mol Med"},{"key":"10.1016\/j.nmd.2021.02.020_bib0014","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/0960-8966(94)00079-O","article-title":"A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene","volume":"5","author":"Manfredi","year":"1995","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2021.02.020_bib0015","first-page":"601","article-title":"Muscle biopsy","volume":"259","author":"Meola G","year":"2012","journal-title":"Clin Privil White Pap"},{"key":"10.1016\/j.nmd.2021.02.020_bib0016","doi-asserted-by":"crossref","first-page":"387","DOI":"10.15252\/embr.201439757","article-title":"Single muscle fiber proteomics reveals unexpected mitochondrial specialization","volume":"16","author":"Murgia","year":"2015","journal-title":"EMBO Rep"},{"key":"10.1016\/j.nmd.2021.02.020_bib0017","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/S0005-2728(02)00305-5","article-title":"Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size","volume":"1556","author":"Gellerich","year":"2002","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.nmd.2021.02.020_bib0018","first-page":"53","article-title":"Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient","volume":"20","author":"Liu","year":"2011","journal-title":"Acta Neurol Taiwan"},{"key":"10.1016\/j.nmd.2021.02.020_bib0019","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.mito.2009.01.006","article-title":"Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy","volume":"9","author":"Bortot","year":"2009","journal-title":"Mitochondrion"},{"key":"10.1016\/j.nmd.2021.02.020_bib0020","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/j.nmd.2005.09.005","article-title":"Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy","volume":"15","author":"Horv\u00e1th","year":"2005","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2021.02.020_bib0021","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.jocn.2010.06.001","article-title":"Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis","volume":"18","author":"Marotta","year":"2011","journal-title":"J Clin Neurosci"},{"key":"10.1016\/j.nmd.2021.02.020_bib0022","doi-asserted-by":"crossref","first-page":"2733","DOI":"10.1093\/hmg\/9.18.2733","article-title":"A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome","volume":"9","author":"Tiranti","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2021.02.020_bib0023","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1038\/ng0496-410","article-title":"A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria","volume":"12","author":"Keightley","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2021.02.020_bib0024","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1177\/0883073810371227","article-title":"Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene","volume":"26","author":"Mkaouar-Rebai","year":"2011","journal-title":"J Child Neurol"},{"key":"10.1016\/j.nmd.2021.02.020_bib0025","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.bbrc.2015.01.151","article-title":"A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy","volume":"459","author":"Tabebi","year":"2015","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.nmd.2021.02.020_bib0026","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1136\/jmg.39.11.812","article-title":"Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene","volume":"39","author":"Horv\u00e1th","year":"2002","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2021.02.020_bib0027","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1212\/WNL.55.5.644","article-title":"Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA","volume":"55","author":"Karadimas","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2021.02.020_bib0028","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/ana.410430119","article-title":"Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease","volume":"43","author":"Comi","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2021.02.020_bib0029","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/j.bbabio.2008.10.001","article-title":"Identification of novel mutations in five patients with mitochondrial encephalomyopathy","volume":"1787","author":"Valente","year":"2009","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.nmd.2021.02.020_bib0030","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1086\/302546","article-title":"A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV","volume":"65","author":"Bruno","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2021.02.020_bib0031","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1038\/ejhg.2014.49","article-title":"Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?","volume":"23","author":"Seneca","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2021.02.020_bib0032","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1093\/jnen\/64.2.123","article-title":"Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I","volume":"64","author":"Kollberg","year":"2005","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.nmd.2021.02.020_bib0033","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1136\/jmg.2007.052076","article-title":"Isolated cytochrome c oxidase deficiency as a cause of MELAS","volume":"45","author":"Rossmanith","year":"2008","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2021.02.020_bib0034","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/ana.1141","article-title":"Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene","volume":"50","author":"Campos","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2021.02.020_bib0035","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/1096-8628(20010722)102:1<95::AID-AJMG1412>3.0.CO;2-U","article-title":"Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II","volume":"102","author":"Wong","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nmd.2021.02.020_bib0036","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1186\/s12883-017-0883-5","article-title":"Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder","volume":"17","author":"Kyt\u00f6vuori","year":"2017","journal-title":"BMC Neurol"},{"key":"10.1016\/j.nmd.2021.02.020_bib0037","doi-asserted-by":"crossref","first-page":"394","DOI":"10.3109\/19401736.2013.803086","article-title":"A novel MT-CO2 m.8249G>A pathogenic variation and the MT-TW m.5521G>A mutation in patients with mitochondrial myopathy","volume":"25","author":"Mkaouar-Rebai","year":"2014","journal-title":"Mitochondrial DNA"},{"key":"10.1016\/j.nmd.2021.02.020_bib0038","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1086\/302590","article-title":"A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy","volume":"65","author":"Rahman","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2021.02.020_bib0039","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1038\/nature20157","article-title":"Mechanism of super-assembly of respiratory complexes III and IV","volume":"539","author":"Cogliati","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2021.02.020_bib0040","doi-asserted-by":"crossref","first-page":"2387","DOI":"10.1016\/j.celrep.2016.07.081","article-title":"COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation","volume":"16","author":"P\u00e9rez-P\u00e9rez","year":"2016","journal-title":"Cell Rep"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089662100064X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089662100064X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T07:22:24Z","timestamp":1778570544000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S096089662100064X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":40,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["S096089662100064X"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2021.02.020","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2021,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel nonsense variant in MT-CO3 causes MELAS syndrome","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2021.02.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}