MITOMAP References for RNA Mutation G12276A

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Index	PMID	Date	Reference
1	15591266	2004	Zsurka, G., Schroder, R., Kornblum, C., Rudolph, J., Wiesner, R. J., Elger, C. E., Kunz, W. S. (2004) Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism Journal of Medical Genetics . 41 (12): e124 .
2	15649400	2005	Cardaioli, E., Da Pozzo, P., Radi, E., Dotti, M. T., Federico, A. (2005) A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia Biochemical and Biophysical Research Communications . 327 (3): 675-678 .
3	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 .
4	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 .