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dc.contributor.authorZanette, Vanessa
dc.contributor.authorValle, Daniel do
dc.contributor.authorTelles, Bruno Augusto
dc.contributor.authorRobinson, Alan
dc.contributor.authorMonteiro, Vaneisse
dc.contributor.authorSantos, Mara Lucia SF
dc.contributor.authorSouza, Ricardo Lehtonen R
dc.contributor.authorBenincá, Cristiane
dc.date.accessioned2022-01-07T16:52:15Z
dc.date.available2022-01-07T16:52:15Z
dc.date.issued2021
dc.identifier.issn1415-4757
dc.identifier.otherPMC8607527
dc.identifier.other34807224
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/332409
dc.description.abstractMitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI deficiency in the brazilian population by reporting three patients with pathogenic (c.640G>A, c.1268C>T, c.1207dupG) and likely pathogenic (c.766C>T) variants in the NDUFV1 gene. We show the mutation c.766C>T associated with a childhood onset phenotype of hypotonia, muscle weakness, psychomotor regression, lethargy, dysphagia, and strabismus. Additionally, this mutation was found to be associated with headaches and exercise intolerance in adulthood. We also review reported pathogenic variants in NDUFV1 highlighting the wide phenotypic heterogeneity in CI deficiency.
dc.languageeng
dc.publisherFapUNIFESP (SciELO)
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.sourceessn: 1678-4685
dc.sourcenlmid: 100883590
dc.titleNDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
dc.typeArticle
dc.date.updated2022-01-07T16:52:15Z
prism.issueIdentifier4
prism.publicationNameGenet Mol Biol
prism.volume44
dc.identifier.doi10.17863/CAM.79855
dcterms.dateAccepted2021-08-18
rioxxterms.versionofrecord10.1590/1678-4685-GMB-2021-0149
rioxxterms.versionVoR
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidZanette, Vanessa [0000-0003-4480-2286]
dc.contributor.orcidValle, Daniel do [0000-0001-9005-6726]
dc.contributor.orcidRobinson, Alan [0000-0001-9943-0059]
dc.contributor.orcidMonteiro, Vaneisse [0000-0003-4062-4638]
dc.contributor.orcidSouza, Ricardo Lehtonen R [0000-0003-2591-8857]
dc.contributor.orcidBenincá, Cristiane [0000-0001-7933-860X]
dc.identifier.eissn1678-4685
cam.issuedOnline2021


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International