@article{article3133d797, title = {Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation}, author = {Garcia-Diaz, Beatriz and Barros, Mário Henrique de and Sanna-Cherchi, Simone and Emmanuele, Valentina and Akman, Hasan O. and Ferreiro-Barros, Claudia C. and Horvath, Rita and Tadesse, Saba and El Gharaby, Nader and Di Mauro, Salvatore and De Vivo, Darryl C. and Shokr, Aly and Hirano, Michio and Quinzii, Catarina M.}, year = {2012}, doi = {10.1016/j.ajhg.2012.08.019}, journal = {American Journal of Human Genetics} }