{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T23:49:08Z","timestamp":1792712948361,"version":"4.5.0"},"reference-count":34,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2020,8]]},"DOI":"10.1016\/j.ejmg.2020.103898","type":"journal-article","created":{"date-parts":[[2020,4,27]],"date-time":"2020-04-27T14:39:28Z","timestamp":1587998368000},"page":"103898","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":34,"title":["Clinical and molecular characterization of pediatric mitochondrial disorders in south of China"],"prefix":"10.1016","volume":"63","author":[{"given":"Chaoping","family":"Hu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xihua","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiyun","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuizhen","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bingbing","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2020.103898_bib1","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1136\/jmg.2009.067686","article-title":"The unfolding clinical spectrum of POLG mutations","volume":"46","author":"Blok","year":"2009","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2020.103898_bib2","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1038\/ng.659","article-title":"High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency","volume":"42","author":"Calvo","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2020.103898_bib3","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ymgme.2013.07.009","article-title":"Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene","volume":"110","author":"Chanprasert","year":"2013","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.ejmg.2020.103898_bib4","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1007\/s10545-015-9857-1","article-title":"Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy","volume":"38","author":"Debray","year":"2015","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2020.103898_bib5","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1007\/s11427-017-9080-y","article-title":"The clinical and genetic characteristics in children with mitochondrial disease in China","volume":"60","author":"Fang","year":"2017","journal-title":"Sci. China Life Sci."},{"key":"10.1016\/j.ejmg.2020.103898_bib6","doi-asserted-by":"crossref","first-page":"4183","DOI":"10.1093\/hmg\/ddv164","article-title":"FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy","volume":"24","author":"Fassone","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2020.103898_bib7","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1186\/1750-1172-8-188","article-title":"HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase","volume":"8","author":"Ferdinandusse","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejmg.2020.103898_bib8","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.ejmg.2020.103898_bib9","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1002\/ana.24362","article-title":"Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease","volume":"77","author":"Gorman","year":"2015","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ejmg.2020.103898_bib10","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.ymgme.2011.08.008","article-title":"Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein","volume":"104","author":"Imbard","year":"2011","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.ejmg.2020.103898_bib11","article-title":"Muscle involvement in a large cohort of pediatric patients with genetic diagnosis of mitochondrial disease","volume":"8","author":"Jou","year":"2019","journal-title":"J.\u00a0Clin. Med."},{"key":"10.1016\/j.ejmg.2020.103898_bib12","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.pediatrneurol.2007.12.001","article-title":"Presentation and diagnosis of mitochondrial disorders in children","volume":"38","author":"Koenig","year":"2008","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ejmg.2020.103898_bib13","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1005679","article-title":"A\u00a0comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies","volume":"12","author":"Kohda","year":"2016","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ejmg.2020.103898_bib14","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/ana.24551","article-title":"Leigh syndrome: one disorder, more than 75 monogenic causes","volume":"79","author":"Lake","year":"2016","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ejmg.2020.103898_bib15","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1016\/j.bbabio.2016.02.022","article-title":"New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies","volume":"1857","author":"Legati","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ejmg.2020.103898_bib16","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1212\/01.wnl.0000244435.27645.54","article-title":"Mitochondrial disease criteria: diagnostic applications in children","volume":"67","author":"Morava","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2020.103898_bib17","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1007\/BF01799112","article-title":"Clinical presentation of mitochondrial disorders in childhood","volume":"19","author":"Munnich","year":"1996","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2020.103898_bib18","article-title":"Myopathology of adult and paediatric mitochondrial diseases","volume":"6","author":"Phadke","year":"2017","journal-title":"J.\u00a0Clin. Med."},{"key":"10.1016\/j.ejmg.2020.103898_bib19","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1186\/s12967-016-0930-9","article-title":"New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre","volume":"14","author":"Pronicka","year":"2016","journal-title":"J.\u00a0Transl. Med."},{"key":"10.1016\/j.ejmg.2020.103898_bib20","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.mito.2006.11.019","article-title":"Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies","volume":"7","author":"Qi","year":"2007","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ejmg.2020.103898_bib21","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1111\/j.1469-8749.2011.04214.x","article-title":"Mitochondrial disease and epilepsy","volume":"54","author":"Rahman","year":"2012","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ejmg.2020.103898_bib22","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2020.103898_bib23","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1136\/jmedgenet-2011-100222","article-title":"Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum","volume":"48","author":"Tang","year":"2011","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2020.103898_bib24","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1002\/humu.22307","article-title":"Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects","volume":"34","author":"Tang","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2020.103898_bib25","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.nmd.2003.12.004","article-title":"The diagnosis of mitochondrial muscle disease","volume":"14","author":"Taylor","year":"2004","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ejmg.2020.103898_bib26","first-page":"102","article-title":"Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes","volume":"264","author":"Torraco","year":"2017","journal-title":"J.\u00a0Neurol."},{"key":"10.1016\/j.ejmg.2020.103898_bib27","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1542\/peds.114.2.443","article-title":"Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes","volume":"114","author":"Uusimaa","year":"2004","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2020.103898_bib28","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/sj.ejhg.5201002","article-title":"Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy","volume":"11","author":"Van Goethem","year":"2003","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2020.103898_bib29","doi-asserted-by":"crossref","first-page":"6350","DOI":"10.1093\/hmg\/ddv344","article-title":"Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system","volume":"24","author":"Varghese","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2020.103898_bib30","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/gim.2017.125","article-title":"Revisiting mitochondrial diagnostic criteria in the new era of genomics","volume":"20","author":"Witters","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2020.103898_bib31","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/s10545-015-9823-y","article-title":"Whole exome sequencing of suspected mitochondrial patients in clinical practice","volume":"38","author":"Wortmann","year":"2015","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2020.103898_bib32","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1016\/j.ymgme.2011.09.025","article-title":"A\u00a0patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence","volume":"104","author":"Yagi","year":"2011","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.ejmg.2020.103898_bib33","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1086\/513872","article-title":"Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment","volume":"195","author":"Yamanaka","year":"2007","journal-title":"J.\u00a0Infect. Dis."},{"key":"10.1016\/j.ejmg.2020.103898_bib34","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1373\/clinchem.2011.181438","article-title":"Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing","volume":"58","author":"Zhang","year":"2012","journal-title":"Clin. Chem."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721219307335?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721219307335?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:48:41Z","timestamp":1761709721000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721219307335"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8]]},"references-count":34,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["S1769721219307335"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.103898","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2020,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and molecular characterization of pediatric mitochondrial disorders in south of China","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.103898","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"103898"}}