Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

Majida Charif¹, Arnaud Chevrollier¹, Naïg Gueguen¹+25

• ¹MitoLab Team (M.C., A.C., C.B., D.G., V.D.-D., S.L., V.P., P.R., D.B., P.A.-B., G.L.), UMR CNRS 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital; Genetics and immuno-cell therapy Team (M.C.), Mohammed First University, Oujda, Morocco; Departments of Biochemistry and Genetics (C.B., D.G., V.D.-D., E.C., V.P., P.R., D.B., P.A.-B.), University Hospital Angers; Department of Ophthalmology (A.M.), Centre Hospitalier Universitaire Saint-Pierre, Brussels, Belgium; Neuroophthalmology Department (C.V.), Rothschild Ophthalmologic Foundation, Paris; Exploration of Visual Function and Neuro-Ophthalmology Department (V.S., S.D.-D., I.D.B.), Lille University Hospital, Rue Emilie Laine, Lille Cedex; CHU Bordeaux (C.G.), Service de Génétique Médicale, Centre de Référence « Neurogénétique » and Université de Bordeaux, INSERM U 1211, Laboratoire Maladies Rares, Génétique et Métabolisme (MRGM) Bordeaux; School of Optometry and Vision Sciences (M.V.), Cardiff University and Cardiff Eye Unit, University Hospital of Wales; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology (N.J., P.Y.-W.-M.), London; Department of Clinical Neurosciences (P.Y.-W.-M.), Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, University of Cambridge; Cambridge Eye Unit (P.Y.-W.-M.), Addenbrooke's Hospital, Cambridge University Hospitals, UK; IRCCS Istituto Delle Scienze Neurologiche di Bologna (F.T., L.C., C.L.M., V.C.), Bellaria Hospital; Unit of Neurology (C.L.M., V.C.), Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy; Centre de Compétence Maladies Rares (X.Z.), Clinique Pluridisciplinaire Jules Verne, Nantes; and National Centre in Rare Diseases (I.M.), Genetics of Sensory Diseases, University Hospital, Montpellier, France.