The mitochondrial disulfide relay system protein GFER is mutated in autosomal recessive myopathy with congenital cataract and COX deficiency

The mitochondrial disulfide relay system protein GFER is mutated in autosomal recessive myopathy with congenital cataract and COX deficiency / A. Di Fonzo, D. Ronchi, T. Lodi, E. Fassone, M. Tingano, C. Lamperti, S. Corti, A. Bordoni, F. Fortunato, M. Nizzardo, L. Napoli, C. Donadoni, S. Salani, M. Moggio, N. Bresolin, I. Ferrero, G. Comi. ((Intervento presentato al convegno Nineteenth Meeting of the European Neurological Society tenutosi a Milan nel null.