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Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.

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第一作者： Arnaud,Chevrollier

第一单位： MitoVasc Unit, INSERM U1083, CNRS 6015, SFR-ICAT, Angers University, MitoLab Team, 49000 Angers, France.

作者： Arnaud,Chevrollier ^[1] ; Adeline Alice,Bonnard ^[2] ; Lyse,Ruaud ^[3] ; Naïg,Gueguen ^[4] ; Laurence,Perrin ^[5] ; Valérie,Desquiret-Dumas ^[4] ; Fabien,Guimiot ^[6] ; Pierre-Hadrien,Becker ^[7] ; Jonathan,Levy ^[8] ; Pascal,Reynier ^[4] ; Pauline,Gaignard ^[7]

作者单位： MitoVasc Unit, INSERM U1083, CNRS 6015, SFR-ICAT, Angers University, MitoLab Team, 49000 Angers, France. ^[1] Department of Genetics, APHP Nord, Robert Debré University Hospital, 75019 Paris, France.;INSERM UMR 1131, Saint-Louis Research Institute, Paris University, 75010 Paris, France. ^[2] Department of Genetics, APHP Nord, Robert Debré University Hospital, 75019 Paris, France.;INSERM UMR 1141, Paris-Cité University, NeuroDiderot, 75019 Paris, France. ^[3] MitoVasc Unit, INSERM U1083, CNRS 6015, SFR-ICAT, Angers University, MitoLab Team, 49000 Angers, France.;Department of Biochemistry and Molecular biology, Angers University Hospital, 49000 Angers, France. ^[4] Department of Genetics, APHP Nord, Robert Debré University Hospital, 75019 Paris, France. ^[5] INSERM UMR 1141, Paris-Cité University, NeuroDiderot, 75019 Paris, France.;Genetic department, CHU Robert Debre, Fetal Pathology Unit, 75019 Paris, France. ^[6] Multi-site medical biology laboratory SeqOIA-FMG2025, 75014 Paris, France.;APHP Paris-Saclay, Department of Biochemistry, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, 94275 Le Kremlin-Bicêtre, France. ^[7] Department of Genetics, APHP Nord, Robert Debré University Hospital, 75019 Paris, France.;Multi-site medical biology laboratory SeqOIA-FMG2025, 75014 Paris, France. ^[8]

关键词 early onset mitochondrial dynamics mitochondrial fusion neurological disorders