MITOMAP References for Variant T8306C at 8306

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PMID Reference
23847141 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 .
22925535 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 .
29663531 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 .