Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation - Garcia-Diaz, Beatriz; Barros, Mário Henrique de; Sanna-Cherchi, Simone; Emmanuele, Valentina; Akman, Hasan O.; Ferreiro-Barros, Claudia C.; Horvath, Rita; Tadesse, Saba; El Gharaby, Nader; Di Mauro, Salvatore; De Vivo, Darryl C.; Shokr, Aly; et al. (American Journal of Human Genetics, 2012)