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B. Garcia-Diaz, M. H. Barros, S. Sanna-Cherchi, V. Emmanuele, H. O. Akman, C. C. Ferreiro-Barros, R. Horvath, S. Tadesse, N. El Gharaby, S. Dimauro, D. C. De Vivo, A. Shokr, M. Hirano and C. M. Quinzii, “Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation,” The American Journal of Human Genetics, Vol. 91, No. 4, 2012, pp. 729-736. doi:10.1016/j.ajhg.2012.08.019

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