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Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation
Garcia Diaz, Beatriz; Barros, Mario H.; Sanna, Simone; Emmanuele, Valentina; Akman, Hasan O; Ferreiro Barros, Claudia C.; Horvath, Rita; Tadesse, Saba; El Gharaby, Nader; DiMauro, Salvatore; De Vivo, Darryl C.; Shokr, Aly; Hirado, Michio; Quinzii, Catarina M[et al.] (The American Society of Human Genetics, 2012)Defects of mitochondrial protein synthesis are clinically and genetically heterogeneous. We previously described a male infant who was born to consanguineous parents and who presented with severe congenital encephalopathy, ...