{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T18:27:41Z","timestamp":1761589661328,"version":"build-2065373602"},"reference-count":30,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2019,3]]},"DOI":"10.1016\/j.mito.2018.01.010","type":"journal-article","created":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T12:52:41Z","timestamp":1517489561000},"page":"18-21","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation"],"prefix":"10.1016","volume":"45","author":[{"given":"Lauren","family":"Brady","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bekim","family":"Sadikovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. Anthony","family":"Rupar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark A.","family":"Tarnopolsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.mito.2018.01.010_bb0005","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1203\/01.pdr.0000198771.78290.c4","article-title":"Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis","volume":"59","author":"Blakely","year":"2006","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.mito.2018.01.010_bb0010","first-page":"703","article-title":"Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia","volume":"58","author":"De Vries","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2018.01.010_bb0015","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1023\/A:1005357506614","article-title":"A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues","volume":"20","author":"Degoul","year":"1997","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.mito.2018.01.010_bb0020","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1126\/science.1147786","article-title":"A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations","volume":"319","author":"Fan","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.mito.2018.01.010_bb0025","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1093\/hmg\/5.11.1835","article-title":"A novel heteroplasmic tRNAleu (CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy","volume":"5","author":"Fu","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2018.01.010_bb0030","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1038\/pr.2012.43","article-title":"Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine (UCN) mutation","volume":"72","author":"G\u00f6tz","year":"2012","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.mito.2018.01.010_bb0035","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/ajmg.a.20456","article-title":"Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation","volume":"124","author":"Gropman","year":"2004","journal-title":"Am. J. Med. Genet. Part A."},{"key":"10.1016\/j.mito.2018.01.010_bb0040","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/331717a0","article-title":"Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies","volume":"331","author":"Holt","year":"1988","journal-title":"Nature"},{"key":"10.1016\/j.mito.2018.01.010_bb0045","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1534\/genetics.103.025049","article-title":"Paternal mitochondrial DNA transmission during nonhuman primate nuclear transfer","volume":"167","author":"John","year":"2004","journal-title":"Genetics"},{"key":"10.1016\/j.mito.2018.01.010_bb0050","doi-asserted-by":"crossref","first-page":"6206","DOI":"10.1073\/pnas.91.13.6206","article-title":"A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia","volume":"91","author":"Jun","year":"1994","journal-title":"Proc. Natl. Acad. Sci. U.S.A. Proc. Natl. Acad. Sci."},{"year":"2017","series-title":"Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels","author":"Kerkhof","key":"10.1016\/j.mito.2018.01.010_bb0055"},{"key":"10.1016\/j.mito.2018.01.010_bb0060","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/1531-8249(200007)48:1<102::AID-ANA15>3.0.CO;2-M","article-title":"Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families","volume":"48","author":"Kirby","year":"2000","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mito.2018.01.010_bb0065","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.scr.2017.03.004","article-title":"Mitochondrial matters: mitochondrial bottlenecks, self-assembling structures, and entrapment in the female germline","volume":"21","author":"Marlow","year":"2017","journal-title":"Stem Cell Res."},{"key":"10.1016\/j.mito.2018.01.010_bb0070","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1038\/ejhg.2014.35","article-title":"A national perspective on prenatal testing for mitochondrial disease","volume":"22","author":"Nesbitt","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.mito.2018.01.010_bb0075","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1186\/1471-2377-11-85","article-title":"Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report","volume":"11","author":"Ronchi","year":"2011","journal-title":"BMC Neurol."},{"key":"10.1016\/j.mito.2018.01.010_bb0080","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.jmoldx.2016.04.002","article-title":"Clinical next-generation sequencing pipeline outperforms a combined approach using sanger sequencing and multiplex ligation-dependent probe amplification in targeted gene panel analysis","volume":"8","author":"Schenkel","year":"2016","journal-title":"J. Mol. Diag."},{"key":"10.1016\/j.mito.2018.01.010_bb0085","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1002\/ana.410380207","article-title":"Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation","volume":"38","author":"Shoffner","year":"1995","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mito.2018.01.010_bb0090","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1002\/ajmg.a.20449","article-title":"Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation","volume":"124","author":"Tarnopolsky","year":"2004","journal-title":"Am. J. Med. Genet. Part A"},{"key":"10.1016\/j.mito.2018.01.010_bb0095","doi-asserted-by":"crossref","first-page":"2020","DOI":"10.1002\/ajmg.a.36000","article-title":"Severe infantile Leigh syndrome associated with a rare mitochondrial ND6 mutation, m. 14487T>C. Am","volume":"161","author":"Tarnopolsky","year":"2013","journal-title":"J. Med. Genet Part A"},{"key":"10.1016\/j.mito.2018.01.010_bb0100","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/S0960-8966(02)00026-3","article-title":"A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy","volume":"12","author":"Taylor","year":"2002","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.mito.2018.01.010_bb0105","doi-asserted-by":"crossref","DOI":"10.1136\/jmg.40.7.e85","article-title":"Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy","volume":"40","author":"Taylor","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mito.2018.01.010_bb0110","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1007\/s00441-016-2414-x","article-title":"Exclusion of dysfunctional mitochondria from Balbiani body during early oogenesis of Thermobia","volume":"366","author":"Tworzydlo","year":"2016","journal-title":"Cell Tissue Res."},{"year":"1997","series-title":"Detection of Mitochondrial DNA Mutation 14459 Associated with Dystonia and\/or Leber's Hereditary Optic Neuropathy","author":"Wallace","key":"10.1016\/j.mito.2018.01.010_bb0115"},{"year":"2007","series-title":"Emery and Rimoin's Principles and Practice of Medical Genetics","author":"Wallace","key":"10.1016\/j.mito.2018.01.010_bb0120"},{"key":"10.1016\/j.mito.2018.01.010_bb0125","first-page":"373","article-title":"A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle","volume":"60","author":"Weber","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2018.01.010_bb0130","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1086\/302488","article-title":"Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993","volume":"65","author":"White","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2018.01.010_bb0135","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1017\/S096719940100140X","article-title":"Confocal microscopy analysis of the activity of mitochondria contained within the 'mitochondrial cloud' during oogenesis in Xenopus Laevis","volume":"9","author":"Wilding","year":"2001","journal-title":"Zygote"},{"key":"10.1016\/j.mito.2018.01.010_bb0140","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1093\/hmg\/ddv626","article-title":"Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck","volume":"25","author":"Wilson","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2018.01.010_bb0145","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.mito.2013.09.004","article-title":"A new mutation in MT-ND1 m. 3928G> C p. V208L causes Leigh disease with infantile spasms","volume":"13","author":"Wray","year":"2013","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2018.01.010_bb0150","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1111\/j.1440-169X.2008.00988.x","article-title":"Mitochondrial behavior during oogenesis in zebrafish: a confocal microscopy analysis","volume":"50","author":"Zhang","year":"2008","journal-title":"Develop. Growth Differ."}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724917303288?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724917303288?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T18:22:20Z","timestamp":1761589340000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724917303288"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3]]},"references-count":30,"alternative-id":["S1567724917303288"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2018.01.010","relation":{},"ISSN":["1567-7249"],"issn-type":[{"type":"print","value":"1567-7249"}],"subject":[],"published":{"date-parts":[[2019,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2018.01.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier B.V. and Mitochondria Research Society. All rights reserved.","name":"copyright","label":"Copyright"}]}}