Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

• Alessandro Achilli ,

  Contributed equally to this work with: Alessandro Achilli, Luisa Iommarini

  Affiliation Dipartimento di Biologia Cellulare e Ambientale, Università di Perugia, Perugia, Italy

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• Luisa Iommarini ,

  Contributed equally to this work with: Alessandro Achilli, Luisa Iommarini

  Affiliation IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy

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• Anna Olivieri,

  Affiliation Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy

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• Maria Pala,

  Affiliation Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy

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• Baharak Hooshiar Kashani,

  Affiliation Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy

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• Pascal Reynier,

  Affiliations UMR INSERM, U1083-CNRS6214, Angers, France, University of Angers, School of Medicine, Angers, France, University Hospital of Angers, Department of Biochemistry and Genetics, Angers, France

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• Chiara La Morgia,

  Affiliation IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy

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• Maria Lucia Valentino,

  Affiliation IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy

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• Rocco Liguori,

  Affiliation IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy

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• Fabio Pizza,

  Affiliation IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy

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• Piero Barboni,

  Affiliations IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy, Studio Oculistico D’Azeglio, Bologna, Italy

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• Federico Sadun,

  Affiliation Ospedale San Giovanni Evangelista, Tivoli, Italy

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• Anna Maria De Negri,

  Affiliation Azienda San Camillo-Forlanini, Rome, Italy

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• Massimo Zeviani,

  Affiliation Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children’s Mitochondrial Disorders, Foundation “C. Besta” Neurological Institute-IRCCS, Milan, Italy

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• Helene Dollfus,

  Affiliation Centre de référence pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France

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• Antoine Moulignier,

  Affiliation Service de Neurologie, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France

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• Ghislaine Ducos,

  Affiliation Department of Ophthalmology, Saint Jean Languedoc Clinic, Toulouse, France

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• Christophe Orssaud,

  Affiliation Centre de Référence des Maladies Rares en Ophtalmologie, Consultationd ‘Ophtalmologie, HEGP, Assistance Publique – Hôpitaux de Paris, Paris, France

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• Dominique Bonneau,

  Affiliations UMR INSERM, U1083-CNRS6214, Angers, France, University of Angers, School of Medicine, Angers, France, University Hospital of Angers, Department of Biochemistry and Genetics, Angers, France

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• Vincent Procaccio,

  Affiliations UMR INSERM, U1083-CNRS6214, Angers, France, University of Angers, School of Medicine, Angers, France, University Hospital of Angers, Department of Biochemistry and Genetics, Angers, France

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• Beate Leo-Kottler,

  Affiliation Centre for Ophthalmology, University Clinics Tuebingen, Tubingen, Germany

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• Sascha Fauser,

  Affiliation Department of Vitreo-Retinal Surgery, Center of Ophthalmology, University of Cologne, Cologne, Germany

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• Bernd Wissinger,

  Affiliation Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tuebingen, Tuebingen, Germany

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• Patrizia Amati-Bonneau,

  Affiliations UMR INSERM, U1083-CNRS6214, Angers, France, University Hospital of Angers, Department of Biochemistry and Genetics, Angers, France

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• Antonio Torroni,

  Affiliation Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy

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•  [ ... ],
• Valerio Carelli

  * E-mail: valerio.carelli@unibo.it

  Affiliation IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy

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