Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Author:

Charif Majida1,Nasca Alessia2,Thompson Kyle3,Gerber Sylvie4,Makowski Christine5,Mazaheri Neda67,Bris Céline1,Goudenège David1,Legati Andrea2,Maroofian Reza8,Shariati Gholamreza9,Lamantea Eleonora2,Hopton Sila3,Ardissone Anna10,Moroni Isabella10,Giannotta Melania11,Siegel Corinna12,Strom Tim M.1213,Prokisch Holger1213,Vignal-Clermont Catherine14,Derrien Sabine14,Zanlonghi Xavier15,Kaplan Josseline4,Hamel Christian P.16,Leruez Stephanie1,Procaccio Vincent1,Bonneau Dominique1,Reynier Pascal1,White Frances E.3,Hardy Steven A.3,Barbosa Inês A.17,Simpson Michael A.17,Vara Roshni18,Perdomo Trujillo Yaumara19,Galehdari Hamind7,Deshpande Charu20,Haack Tobias B.121321,Rozet Jean-Michel4,Taylor Robert W.3,Ghezzi Daniele2,Amati-Bonneau Patrizia1,Lenaers Guy1

Affiliation:

1. MitoLab Team, Unités Mixtes de Recherche Centre National de la Recherche Scientifique 6015–INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France

2. Unit of Molecular Neurogenetics, Istituto di Ricovero e Cura a Carattere Scientifico, Foundation of the Carlo Besta Neurological Institute, Milan, Italy

3. Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, England

4. Laboratory of Genetics in Ophthalmology, INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris, France

5. Department of Paediatrics, Technische Universität München, Munich, Germany

6. Department of Genetics, Shahid Chamran University of Ahvaz, Ahvaz, Iran

7. Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran

8. University of Exeter Medical School, Research, Innovation, Learning and Development, Wellcome Wolfson Centre, Royal Devon and Exeter National Health Service Foundation Trust, Exeter, England

9. Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur, University of Medical Sciences, Ahvaz, Iran

10. Child Neurology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Foundation of the Carlo Besta Neurological Institute, Milan, Italy

11. Child Neurology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Institute of Neurological Sciences, Bologna, Italy

12. Institute of Human Genetics, Technische Universität München, Munich, Germany

13. Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany

14. Département de Neurochirurgie, Service Explorations Neuro-Ophtalmologiques, Fondation Rothschild, Paris, France

15. Clinique Pluridisciplinaire Jules Verne, Nantes, France

16. INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France

17. Division of Genetics and Molecular Medicine, King’s College London School of Medicine, London, England

18. Department of Paediatric Inherited Metabolic Diseases, Evelina Children's Hospital, London, England

19. Centre de Référence Pour Les Affections Rares en Génétique Ophtalmologique, CHU de Strasbourg, Strasbourg, France

20. Clinical Genetics Unit, Guy’s and St Thomas’ National Health Service Foundation Trust, London, England

21. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

Publisher

American Medical Association (AMA)

Subject

Clinical Neurology

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