{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:44:16Z","timestamp":1787503456890,"version":"build-2736575974"},"reference-count":50,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2011,5,1]],"date-time":"2011-05-01T00:00:00Z","timestamp":1304208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,5,1]],"date-time":"2011-05-01T00:00:00Z","timestamp":1304208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["aaojournal.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmology"],"published-print":{"date-parts":[[2011,5]]},"DOI":"10.1016\/j.ophtha.2010.09.003","type":"journal-article","created":{"date-parts":[[2010,12,5]],"date-time":"2010-12-05T04:26:33Z","timestamp":1291523193000},"page":"978-985","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"title":["Leber's Hereditary Optic Neuropathy Is Associated with the T12338C Mutation in Mitochondrial ND5 Gene in Six Han Chinese Families"],"prefix":"10.1016","volume":"118","author":[{"given":"Xiao-Ling","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangtian","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuxin","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juanjuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chengwu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanchun","family":"Ji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi-Ping","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan-Hong","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumin","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingzi","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Qu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min-Xin","family":"Guan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ophtha.2010.09.003_bib1","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/S0002-9394(14)72445-6","article-title":"Mitochondria and Leber's hereditary optic neuropathy","volume":"109","author":"Newman","year":"1990","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ophtha.2010.09.003_bib2","first-page":"134","article-title":"Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy","volume":"2","author":"Brown","year":"1994","journal-title":"Clin Neurosci"},{"key":"10.1016\/j.ophtha.2010.09.003_bib3","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmg.2007.054270","article-title":"Inherited mitochondrial optic neuropathies","volume":"46","author":"Yu-Wai-Man","year":"2009","journal-title":"J Med Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib4","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.bbabio.2009.02.024","article-title":"Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders","volume":"1787","author":"Carelli","year":"2009","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.ophtha.2010.09.003_bib5","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"10.1016\/j.ophtha.2010.09.003_bib6","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1159\/000072041","article-title":"LHON and other optic nerve atrophies: the mitochondrial connection","volume":"37","author":"Howell","year":"2003","journal-title":"Dev Ophthalmol"},{"key":"10.1016\/j.ophtha.2010.09.003_bib7","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S0960-8966(03)00240-2","article-title":"Mitochondrial encephalomyopathies: gene mutation","volume":"14","author":"Servidei","year":"2004","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.ophtha.2010.09.003_bib8","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/humu.1380060405","article-title":"Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations","volume":"6","author":"Brown","year":"1995","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ophtha.2010.09.003_bib9","first-page":"481","article-title":"Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy","volume":"59","author":"Mackey","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib10","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1080\/02713689808951221","article-title":"Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy","volume":"17","author":"Mashima","year":"1998","journal-title":"Curr Eye Res"},{"key":"10.1016\/j.ophtha.2010.09.003_bib11","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.ophtha.2008.10.022","article-title":"Extremely low penetrance of Leber's hereditary optic neuropathy in eight Han Chinese families carrying the ND4 G11778A mutation","volume":"116","author":"Qu","year":"2009","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2010.09.003_bib12","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1016\/j.bbrc.2005.01.062","article-title":"Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation","volume":"328","author":"Qu","year":"2005","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.ophtha.2010.09.003_bib13","first-page":"115","article-title":"Clinical picture of LHON","volume":"2","author":"Nikoskelainen","year":"1994","journal-title":"Clin Neurosci"},{"key":"10.1016\/j.ophtha.2010.09.003_bib14","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1086\/519394","article-title":"Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background","volume":"81","author":"Hudson","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib15","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1016\/0006-291X(91)91567-V","article-title":"Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy","volume":"174","author":"Johns","year":"1991","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.ophtha.2010.09.003_bib16","first-page":"1107","article-title":"Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484","volume":"60","author":"Torroni","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib17","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1016\/j.ajhg.2008.11.002","article-title":"Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of Leber hereditary optic neuropathy in Chinese families with the m.11778G\u2192A mutation","volume":"83","author":"Ji","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib18","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1086\/375537","article-title":"Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy","volume":"72","author":"Howell","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib19","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1016\/j.bbrc.2005.05.003","article-title":"Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy","volume":"332","author":"Qian","year":"2005","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.ophtha.2010.09.003_bib20","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1167\/iovs.05-0665","article-title":"The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family","volume":"47","author":"Qu","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2010.09.003_bib21","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.gene.2006.02.014","article-title":"The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family","volume":"376","author":"Li","year":"2006","journal-title":"Gene"},{"key":"10.1016\/j.ophtha.2010.09.003_bib22","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.mito.2006.11.015","article-title":"Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family","volume":"7","author":"Qu","year":"2007","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ophtha.2010.09.003_bib23","doi-asserted-by":"crossref","first-page":"4906","DOI":"10.1167\/iovs.09-5027","article-title":"Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families","volume":"51","author":"Qu","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2010.09.003_bib24","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.bbrc.2006.06.075","article-title":"Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families","volume":"347","author":"Sun","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.ophtha.2010.09.003_bib25","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.bbagen.2009.08.010","article-title":"Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation","volume":"1800","author":"Qu","year":"2010","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.ophtha.2010.09.003_bib26","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.ymgme.2009.12.004","article-title":"Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation","volume":"99","author":"Tong","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.ophtha.2010.09.003_bib27","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.bbrc.2005.11.150","article-title":"Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families","volume":"340","author":"Zhou","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.ophtha.2010.09.003_bib28","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.bbrc.2009.03.097","article-title":"Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation","volume":"383","author":"Liang","year":"2009","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.ophtha.2010.09.003_bib29","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/j.bbrc.2009.08.168","article-title":"Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation","volume":"389","author":"Zhao","year":"2009","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.ophtha.2010.09.003_bib30","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/13779","article-title":"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA","volume":"23","author":"Andrews","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib31","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1093\/nar\/26.4.967","article-title":"Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome","volume":"26","author":"Rieder","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ophtha.2010.09.003_bib32","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1101\/gr.2286304","article-title":"Mitochondrial genome variation in eastern Asia and the peopling of Japan","volume":"14","author":"Tanaka","year":"2004","journal-title":"Genome Res"},{"key":"10.1016\/j.ophtha.2010.09.003_bib33","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1093\/hmg\/ddl130","article-title":"Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations","volume":"15","author":"Kong","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib34","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1002\/ajmg.a.32285","article-title":"Mitochondrial ND5 T12338C, tRNACys T5802C, and tRNAThr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees","volume":"146A","author":"Chen","year":"2008","journal-title":"Am J Med Genet"},{"issue":"database issue","key":"10.1016\/j.ophtha.2010.09.003_bib35","doi-asserted-by":"crossref","first-page":"D611","DOI":"10.1093\/nar\/gki079","article-title":"MITOMAP: a human mitochondrial genome database\u20142004 update","volume":"33","author":"Brandon","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ophtha.2010.09.003_bib36","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0092-8674(81)90300-7","article-title":"Sequence and gene organization of mouse mitochondrial DNA","volume":"26","author":"Bibb","year":"1981","journal-title":"Cell"},{"key":"10.1016\/j.ophtha.2010.09.003_bib37","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1007\/BF02602930","article-title":"The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates","volume":"28","author":"Gadaleta","year":"1989","journal-title":"J Mol Evol"},{"key":"10.1016\/j.ophtha.2010.09.003_bib38","doi-asserted-by":"crossref","first-page":"9759","DOI":"10.1016\/S0021-9258(17)39303-1","article-title":"The complete nucleotide sequence of the Xenopus laevis mitochondrial genome","volume":"260","author":"Roe","year":"1985","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ophtha.2010.09.003_bib39","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1146\/annurev.genet.39.110304.095751","article-title":"A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine","volume":"39","author":"Wallace","year":"2005","journal-title":"Annu Rev Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib40","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1093\/nar\/gkh226","article-title":"Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness","volume":"32","author":"Li","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ophtha.2010.09.003_bib41","first-page":"5998","article-title":"2001","volume":"61","author":"Liu","year":"2001","journal-title":"Cancer Res"},{"key":"10.1016\/j.ophtha.2010.09.003_bib42","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1016\/S1673-8527(08)60086-7","article-title":"Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation","volume":"35","author":"Cai","year":"2008","journal-title":"J Genet Genomics"},{"key":"10.1016\/j.ophtha.2010.09.003_bib43","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.ymgme.2010.04.013","article-title":"Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation","volume":"100","author":"Zhou","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.ophtha.2010.09.003_bib44","first-page":"77","article-title":"Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation","volume":"57","author":"Harding","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib45","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/S0002-9394(14)76784-4","article-title":"The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation","volume":"111","author":"Newman","year":"1991","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ophtha.2010.09.003_bib46","doi-asserted-by":"crossref","first-page":"8198","DOI":"10.1073\/pnas.88.18.8198","article-title":"X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation","volume":"88","author":"Bu","year":"1991","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.ophtha.2010.09.003_bib47","first-page":"486","article-title":"Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7","volume":"48","author":"Vilkki","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib48","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1086\/498176","article-title":"Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder","volume":"77","author":"Hudson","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib49","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1080\/13816810701867607","article-title":"Evidence for a novel x-linked modifier locus for Leber hereditary optic neuropathy","volume":"29","author":"Shankar","year":"2008","journal-title":"Ophthalmic Genet"},{"key":"10.1016\/j.ophtha.2010.09.003_bib50","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/s00439-010-0821-8","article-title":"Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand","volume":"128","author":"Phasukkijwatana","year":"2010","journal-title":"Hum Genet"}],"container-title":["Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642010009711?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642010009711?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T14:02:00Z","timestamp":1758981720000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0161642010009711"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5]]},"references-count":50,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,5]]}},"alternative-id":["S0161642010009711"],"URL":"https:\/\/doi.org\/10.1016\/j.ophtha.2010.09.003","relation":{},"ISSN":["0161-6420"],"issn-type":[{"value":"0161-6420","type":"print"}],"subject":[],"published":{"date-parts":[[2011,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Leber's Hereditary Optic Neuropathy Is Associated with the T12338C Mutation in Mitochondrial ND5 Gene in Six Han Chinese Families","name":"articletitle","label":"Article Title"},{"value":"Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ophtha.2010.09.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}