MITOMAP References for Mutation A-G at 3395

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1 21144833 2011 Chamkha, I., Mkaouar-Rebai, E., Aloulou, H., Chabchoub, I., Kifagi, C., Fendri-Kriaa, N., Kammoun, T., Hachicha, M., Fakhfakh, F. (2011) A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss Biochemical and Biophysical Research Communications . 404 (1): 504-510 .
2 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 .
3 16060290 2005 Guo, L. J., Oshida, Y., Fuku, N., Takeyasu, T., Fujita, Y., Kurata, M., Sato, Y., Ito, M., Tanaka, M. (2005) Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity Mitochondrion . 5 (1): 15-33 .
4 20643099 2010 Zou, Y., Jia, X., Zhang, A. M., Wang, W. Z., Li, S., Guo, X., Kong, Q. P., Zhang, Q., Yao, Y. G. (2010) The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations Biochemical and Biophysical Research Communications . 399 (2): 179-185 .
5 28139165 2017 Soldath, P., Wegener, M., Sander, B., Rosenberg, T., Duno, M., Wibrand, F., Vissing, J. (2017) Leber hereditary optic neuropathy due to a new ND1 mutation Ophthalmic Genetics . 38 (5): 480-485 .
6 23301511 2013 Mkaouar-Rebai, E., Chamkha, I., Mezghani, N., Ben Ayed, I., Fakhfakh, F. (2013) Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study Mitochondrial DNA . 24 (3): 163-178 .
7 32011699 2020 Gutierrez Cortes, N., Pertuiset, C., Dumon, E., Borlin, M., Da Costa, B., Le Guedard, M., Stojkovic, T., Loundon, N., Rouillon, I., Nadjar, Y., Letellier, T., Jonard, L., Marlin, S., Rocher, C. (2020) Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations Human Molecular Genetics . 29 (6): 980-989 .
8 32652755 2020 Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutatation . 41 (10): .