[1] GMA Clin, Dept Neurol, Barcelona, Spain
[2] European Reference Network Rare Neuromuscular Dis, Paris, France
[3] Autonomous Univ Barcelona, Barcelona, Spain
[4] GMA Clin, Avda Diagonal 489, Barcelona 08029, Spain
[5] Univ Barcelona, Dept Genet Microbiol & Stat, Barcelona, Spain
[6] Hosp Univ Vall dHebron, Serv Med Nucl, Barcelona, Spain
[7] Cent Catalonia IRIS CC, Inst Res & Innovat Life Sci & Hlth, Manresa, Spain
[8] Hosp San Rafael, Neuroophtalmol Dept, Barcelona, Spain