MITOMAP References for RNA Mutation G3242A

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1 15870203 2005 Kirino, Y., Goto, Y. I., Campos, Y., Arenas, J., Suzuki, T. (2005) Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease Proceedings of the National Academy of Sciences of the United States of America . 102 (20): 7127-7132 .
2 19460299 2009 Mimaki, M., Hatakeyama, H., Ichiyama, T., Isumi, H., Furukawa, S., Akasaka, M., Kamei, A., Komaki, H., Nishino, I., Nonaka, I., Goto, Y. (2009) Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders Mitochondrion . 9 (2): 115-122 .
3 21364701 2011 Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 .
4 22781753 2012 Wortmann, S. B., Champion, M. P., van den Heuvel, L., Barth, H., Trutnau, B., Craig, K., Lammens, M., Schreuder, M. F., Taylor, R. W., Smeitink, J. A., Wevers, R. A., Rodenburg, R. J., Morava, E. (2012) Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? European Journal of Medical Genetics . 55 (10): 552-556 .
5 25313049 2014 Rebolledo-Jaramillo, B., Su, M. S., Stoler, N., McElhoe, J. A., Dickins, B., Blankenberg, D., Korneliussen, T. S., Chiaromonte, F., Nielsen, R., Holland, M. M., Paul, I. M., Nekrutenko, A., Makova, K. D. (2014) Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA Proceedings of the National Academy of Sciences of the United States of America . 111 (43): 15474-15479 .
6 24667782 2015 Seneca, S., Vancampenhout, K., Van Coster, R., Smet, J., Lissens, W., Vanlander, A., De Paepe, B., Jonckheere, A., Stouffs, K., De Meirleir, L. (2015) Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? European Journal of Human Genetics . 23 (1): 41-48 .
7 31965079 2020 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .