{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T23:16:26Z","timestamp":1792278986558,"version":"4.4.0"},"reference-count":24,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100014028","name":"H2020","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014028","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR-2016-02361449"],"award-info":[{"award-number":["GR-2016-02361449"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007560","name":"Chiesi Farmaceutici","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007560","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2021,9]]},"DOI":"10.1016\/j.mito.2021.08.007","type":"journal-article","created":{"date-parts":[[2021,8,11]],"date-time":"2021-08-11T14:27:22Z","timestamp":1628692042000},"page":"142-149","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"special_numbering":"C","title":["The m.3890G&gt;A\/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes"],"prefix":"10.1016","volume":"60","author":[{"given":"Veria","family":"Vacchiano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Caporali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"La Morgia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6034-5295","authenticated-orcid":false,"given":"Michele","family":"Carbonelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5107-223X","authenticated-orcid":false,"given":"Giulia","family":"Amore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Bartolomei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luisa","family":"Cascavilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0118-4177","authenticated-orcid":false,"given":"Piero","family":"Barboni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Costanza","family":"Lamperti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9948-5906","authenticated-orcid":false,"given":"Alessia","family":"Catania","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7120-521X","authenticated-orcid":false,"given":"Jane W.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rustum","family":"Karanja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo A.","family":"Sadun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocco","family":"Liguori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gioele","family":"Gavazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Mascalchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Salvi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Carelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.mito.2021.08.007_b0005","first-page":"235","article-title":"Clinical syndromes associated with mtDNA mutations: where we stand after 30 years","volume":"62","author":"Carelli","year":"2018","journal-title":"EssaysBiochem"},{"issue":"2","key":"10.1016\/j.mito.2021.08.007_b0010","doi-asserted-by":"crossref","first-page":"16080","DOI":"10.1038\/nrdp.2016.80","article-title":"Mitochondrial diseases","volume":"20","author":"Gorman","year":"2016","journal-title":"Nat. Rev. Dis. Primers"},{"issue":"5","key":"10.1016\/j.mito.2021.08.007_b0015","first-page":"518","article-title":"Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders","volume":"1787","author":"Carelli","year":"2009","journal-title":"BiochimBiophysActa"},{"issue":"1","key":"10.1016\/j.mito.2021.08.007_b0020","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1055\/s-2008-1076739","article-title":"Progressive encephalopathy and complex I deficiency associated with mutations in MTND1","volume":"39","author":"Moslemi","year":"2008","journal-title":"Neuropediatrics"},{"issue":"3","key":"10.1016\/j.mito.2021.08.007_b0025","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/j.bbadis.2012.12.002","article-title":"Cybrid studies establish the causal link between the mtDNA m.3890G>A\/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions","volume":"1832","author":"Caporali","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"issue":"10","key":"10.1016\/j.mito.2021.08.007_b0030","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1136\/jmedgenet-2013-101604","article-title":"Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders","volume":"50","author":"Bannwarth","year":"2013","journal-title":"J. Med. Genetics"},{"issue":"2","key":"10.1016\/j.mito.2021.08.007_b0035","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1097\/WNO.0000000000000462","article-title":"Leber hereditary optic neuropathy: visual recovery in a patient with the rare m.3890G>A point mutation","volume":"37","author":"Murray","year":"2017","journal-title":"J. Neuroophthalmol."},{"issue":"32","key":"10.1016\/j.mito.2021.08.007_b0040","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000011606","article-title":"Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency","volume":"97","author":"Ma","year":"2018","journal-title":"Medicine (Baltimore)"},{"issue":"2","key":"10.1016\/j.mito.2021.08.007_b0045","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1007210","article-title":"Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy","volume":"14","author":"Caporali","year":"2018","journal-title":"PLoS Genet."},{"issue":"6","key":"10.1016\/j.mito.2021.08.007_b0050","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.201708262","article-title":"mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease","volume":"10","author":"Grady","year":"2018","journal-title":"EMBO Mol. Med."},{"issue":"4","key":"10.1016\/j.mito.2021.08.007_b0055","doi-asserted-by":"crossref","first-page":"506","DOI":"10.4088\/JCP.11r07237","article-title":"The psychiatric manifestations of mitochondrial disorders: a case and review of the literature","volume":"73","author":"Anglin","year":"2012","journal-title":"J. Clin. Psychiatry"},{"key":"10.1016\/j.mito.2021.08.007_b0060","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.ajp.2016.12.012","article-title":"Schizophrenia-like symptoms in a patient with Leigh syndrome","volume":"25","author":"Satogami","year":"2017","journal-title":"Asian J. Psychiatr."},{"issue":"3","key":"10.1016\/j.mito.2021.08.007_b0065","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1042\/EBC20170109","article-title":"Neuroimaging in mitochondrial disorders","volume":"62","author":"Mascalchi","year":"2018","journal-title":"Essays Biochem."},{"issue":"4","key":"10.1016\/j.mito.2021.08.007_b0070","first-page":"443","article-title":"The neuroimaging of Leigh syndrome: case series and review of the literature","volume":"46","author":"Bonfante","year":"2016","journal-title":"PediatrRadiol."},{"issue":"1","key":"10.1016\/j.mito.2021.08.007_b0075","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1136\/jmg.2010.079624","article-title":"A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency","volume":"48","author":"Lebre","year":"2011","journal-title":"J. Med. Genet."},{"issue":"14","key":"10.1016\/j.mito.2021.08.007_b0080","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/1471-2377-14-116","article-title":"Association of the mtDNA m.4171C>A\/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions","volume":"28","author":"La Morgia","year":"2014","journal-title":"BMC Neurol."},{"key":"10.1016\/j.mito.2021.08.007_b0085","first-page":"334","article-title":"Atypical presentations of leigh syndrome: a case series and review","volume":"32","author":"Huntsman","year":"2005","journal-title":"PediatrNeurol"},{"issue":"10","key":"10.1016\/j.mito.2021.08.007_b0090","doi-asserted-by":"crossref","first-page":"e106","DOI":"10.1212\/WNL.0000000000003061","article-title":"Teaching NeuroImages: spinal cord gray matter involvement in complex I deficiency mitochondriopathy","volume":"87","author":"Mascalchi","year":"2016","journal-title":"Neurology"},{"issue":"8","key":"10.1016\/j.mito.2021.08.007_b0095","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/j.braindev.2018.04.003","article-title":"Spinal cord involvement in Leigh syndrome","volume":"40","author":"Finsterer","year":"2018","journal-title":"Brain Dev."},{"issue":"4","key":"10.1016\/j.mito.2021.08.007_b0100","doi-asserted-by":"crossref","first-page":"310","DOI":"10.4103\/0972-2327.104344","article-title":"An interesting case of Leigh-like syndrome","volume":"15","author":"Bharani","year":"2012","journal-title":"Ann. Indian Acad. Neurol."},{"key":"10.1016\/j.mito.2021.08.007_b0105","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1136\/jnnp.14.3.216","article-title":"Subacute necrotizing encephalomyelopathy in an infant","volume":"14","author":"Leigh","year":"1951","journal-title":"J. Neurol. Neurosurg. Psychiat."},{"issue":"1","key":"10.1016\/j.mito.2021.08.007_b0110","doi-asserted-by":"crossref","first-page":"187","DOI":"10.2214\/ajr.163.1.8010211","article-title":"Friedreich's ataxia: MR findings involving the cervical portion of the spinal cord","volume":"163","author":"Mascalchi","year":"1994","journal-title":"AJR Am. J. Roentgenol."},{"issue":"1","key":"10.1016\/j.mito.2021.08.007_b0115","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/1531-8249(200001)47:1<104::AID-ANA17>3.0.CO;2-X","article-title":"Clinical and magnetic resonance imaging findings in chronic sensory ganglionopathies","volume":"47","author":"Lauria","year":"2000","journal-title":"Ann. Neurol."},{"issue":"7","key":"10.1016\/j.mito.2021.08.007_b0120","doi-asserted-by":"crossref","DOI":"10.1136\/jmg.2005.037507","article-title":"The 13042G \u2013> A\/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype","volume":"43","author":"Valentino","year":"2006","journal-title":"J. Med. Genet."}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724921001082?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724921001082?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T18:28:43Z","timestamp":1761589723000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724921001082"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":24,"alternative-id":["S1567724921001082"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2021.08.007","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The m.3890G>A\/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2021.08.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier B.V. and Mitochondria Research Society. All rights reserved.","name":"copyright","label":"Copyright"}]}}