Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation
Beatriz Garcia-Diaz Mário Henrique de Barros; Simone Sanna-Cherchi; Valentina Emmanuele; Hasan O Akman; Claudia C Ferreiro-Barros; Rita Horvath; Saba Tadesse; Nader El Gharaby; Salvatore Di Mauro; Darryl C DeVivo; Aly Shokr; Michio Hirano; Catarina M Quinzii
American Journal of Human Genetics Chicago v. 91, n. 4, p. 729-736, 2012
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation
Beatriz Garcia-Diaz Mário Henrique de Barros; Simone Sanna-Cherchi; Valentina Emmanuele; Hasan O Akman; Claudia C Ferreiro-Barros; Rita Horvath; Saba Tadesse; Nader El Gharaby; Salvatore Di Mauro; Darryl C DeVivo; Aly Shokr; Michio Hirano; Catarina M Quinzii
American Journal of Human Genetics Chicago v. 91, n. 4, p. 729-736, 2012