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Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).

dc.rights.licenseopenen_US
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorCOURTOIS, Sarah
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorANGELINI, Chloe
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorDURAND, Christelle M.
hal.structure.identifierUniversité de Bordeaux [UB]
dc.contributor.authorDIAS AMOEDO, Nivea
dc.contributor.authorCOURREGES, Armelle
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorDUMON, Elodie
hal.structure.identifierCHU Bordeaux
dc.contributor.authorLE QUANG, Mégane
hal.structure.identifierService de génétique médicale
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
dc.contributor.authorGOIZET, Cyril
hal.structure.identifierInstitut des Maladies Neurodégénératives [Bordeaux] [IMN]
hal.structure.identifierCHU Bordeaux
dc.contributor.authorMARTIN-NEGRIER, Marie-Laure
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROSSIGNOL, Rodrigue
hal.structure.identifierHôpital Pellegrin
hal.structure.identifierService de génétique médicale
hal.structure.identifierCHU Bordeaux
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
dc.contributor.authorCOUPRY, Isabelle
hal.structure.identifierHôpital Pellegrin
hal.structure.identifierService de génétique médicale
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorTRIMOUILLE, Aurelien
dc.date.accessioned2024-02-15T15:21:00Z
dc.date.available2024-02-15T15:21:00Z
dc.date.issued2023-08-26
dc.identifier.issn0925-4439en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/188165
dc.description.abstractEnMitochondrial diseases are genetic disorders impairing mitochondrial functions. Here we describe a patient with a neurodegenerative condition associated with myopia, bilateral sensorineural hearing loss and motor disorders. Brain MRIs showed major cortico-subcortical and infra-tentorial atrophies, as well as intracerebral iron accumulation and central calcifications, compatible with a NBIA-like phenotype. Mitochondrial DNA analysis revealed an undescribed variant: m.8091G>A in the MT-CO2 gene, associated with a complex IV deficiency and a decrease of the mitochondrial respiratory chain capabilities. We report here this pathogenic variant, associated with a NBIA-like phenotype.
dc.language.isoENen_US
dc.subject.enComplex IV
dc.subject.enMitochondriopathies
dc.subject.enIron accumulation
dc.subject.enNBIA
dc.subject.enMT-CO2
dc.title.enMutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
dc.title.alternativeBiochim Biophys Acta Mol Basis Disen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.bbadis.2023.166856en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed37640115en_US
bordeaux.journalBiochimica et Biophysica Acta - Molecular Basis of Diseaseen_US
bordeaux.page166856en_US
bordeaux.volume1870en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04460166
hal.version1
hal.date.transferred2024-02-15T15:21:03Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccPas de Licence CCen_US
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