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D. Ghezzi E. Baruffini, T. B. Haack, F Invernizzi, L. Melchionda, C. Dallabona, T. M. Strom, R. Parini, A. B. Burlina, T. Meitinger, H. Prokisch, I. Ferrero and M. Zeviani, “Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis,” The American Journal of Human Genetics, Vol. 90, No. 6, 2012, pp. 1079-1087. doi:10.1016/j.ajhg.2012.04.011

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