MITOMAP References for RNA Mutation T8306C

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Index PMID Date Reference
1 23847141 2013 Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 .
2 22925535 2012 Cardaioli, E., Malfatti, E., Battisti, C., Da Pozzo, P., Rubegni, A., Gallus, G. N., Malandrini, A., Federico, A. (2012) Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation Journal of the Neurological Sciences . 321 (1-2): 92-95 .
3 29663531 2018 Nadeem, M. S., Ahmad, H., Mohammed, K., Muhammad, K., Ullah, I., Baothman, O. A. S., Ali, N., Anwar, F., Zamzami, M. A., Shakoori, A. R. (2018) Identification of variants in the mitochondrial lysine-tRNA (MT-TK) gene in myoclonic epilepsy-pathogenicity evaluation and structural characterization by in silico approach Journal of Cellular Biochemistry . 119 (7): 6258-6265 .