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Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.
Charif, Majida; Chevrollier, Arnaud; Gueguen, Naïg; Kane, Selma; Bris, Céline; Goudenège, David; Desquiret-Dumas, Valerie; Meunier, Isabelle; Mochel, Fanny; Jeanjean, Luc; Varenne, Fanny; Procaccio, Vincent; Reynier, Pascal; Bonneau, Dominique; Amati-Bonneau, Patrizia; Lenaers, Guy.
Afiliação
  • Charif M; MitoLab Team, UMR CNRS 6015-INSERM U1083, Institut MitoVasc, SFR ICAT, Université d'Angers, 49933 Angers, France.
  • Chevrollier A; Genetics and Immuno-Cell Therapy Team, Mohammed First University, Oujda 60000, Morocco.
  • Gueguen N; MitoLab Team, UMR CNRS 6015-INSERM U1083, Institut MitoVasc, SFR ICAT, Université d'Angers, 49933 Angers, France.
  • Kane S; MitoLab Team, UMR CNRS 6015-INSERM U1083, Institut MitoVasc, SFR ICAT, Université d'Angers, 49933 Angers, France.
  • Bris C; Departments of Biochemistry and Molecular Biology, University Hospital Angers, 49933 Angers, France.
  • Goudenège D; MitoLab Team, UMR CNRS 6015-INSERM U1083, Institut MitoVasc, SFR ICAT, Université d'Angers, 49933 Angers, France.
  • Desquiret-Dumas V; MitoLab Team, UMR CNRS 6015-INSERM U1083, Institut MitoVasc, SFR ICAT, Université d'Angers, 49933 Angers, France.
  • Meunier I; Departments of Biochemistry and Molecular Biology, University Hospital Angers, 49933 Angers, France.
  • Mochel F; MitoLab Team, UMR CNRS 6015-INSERM U1083, Institut MitoVasc, SFR ICAT, Université d'Angers, 49933 Angers, France.
  • Jeanjean L; Departments of Biochemistry and Molecular Biology, University Hospital Angers, 49933 Angers, France.
  • Varenne F; MitoLab Team, UMR CNRS 6015-INSERM U1083, Institut MitoVasc, SFR ICAT, Université d'Angers, 49933 Angers, France.
  • Procaccio V; Departments of Biochemistry and Molecular Biology, University Hospital Angers, 49933 Angers, France.
  • Reynier P; National Reference Centre for Inherited Sensory Diseases, University Hospital of Montpellier, University of Montpellier, 34000 Montpellier, France.
  • Bonneau D; Institut des Neurosciences de Montpellier, INSERM U1051, Université de Montpellier, 34000 Montpellier, France.
  • Amati-Bonneau P; Department of Genetics, AP-HP, Pitié-Salpêtrière University Hospital, 75013 Paris, France.
  • Lenaers G; Department of Ophthalmology, Nîmes University Hospital, CEDEX 9, 30900 Nîmes, France.
Genes (Basel) ; 13(7)2022 07 05.
Article em En | MEDLINE | ID: mdl-35885985
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Óptica Autossômica Dominante / Doenças Mitocondriais Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Óptica Autossômica Dominante / Doenças Mitocondriais Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article