MITOMAP References for RNA Mutation T4290C

• Limongelli, A., Schaefer, J., Jackson, S., Invernizzi, F., Kirino, Y., Suzuki, T., Reichmann, H., Zeviani, M. (2004) Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome Journal of Medical Genetics . 41 (5): 342-349 .


• Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .


• Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 .


• Moreno-Loshuertos, R., Ferrin, G., Acin-Perez, R., Gallardo, M. E., Viscomi, C., Perez-Martos, A., Zeviani, M., Fernandez-Silva, P., Enriquez, J. A. (2011) Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations PLoS Genetics . 7 (4): e1001379 .