MITOMAP References for Variant G1644A at 1644

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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 .
NA Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 .
31965079 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 .
34298071 Imai-Okazaki, A., Matsunaga, A., Yatsuka, Y., Nitta, K. R., Kishita, Y., Sugiura, A., Sugiyama, Y., Fushimi, T., Shimura, M., Ichimoto, K., Tajika, M., Tominaga, M., Ebihara, T., Matsuhashi, T., Tsuruoka, T., Kohda, M., Hirata, T., Harashima, H., Nojiri, S., Takeda, A., Nakaya, A., Kogaki, S., Sakata, Y., Ohtake, A., Murayama, K., Okazaki, Y. (2021) Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients International Journal of Cardiology . S0167-5273 (21): 01080-01089 .
15320572 Menotti, F., Brega, A., Diegoli, M., Grasso, M., Modena, M. G., Arbustini, E. (2004) A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS Italian Heart Journal . 5 (6): 460-465 .
18314141 Tanji, K., Kaufmann, P., Naini, A. B., Lu, J., Parsons, T. C., Wang, D., Willey, J. Z., Shanske, S., Hirano, M., Bonilla, E., Khandji, A., Dimauro, S., Rowland, L. P. (2008) A novel tRNA(Val) mitochondrial DNA mutation causing MELAS Journal of the Neurological Sciences . 270 (1-2): 23-27 .
24691472 Fraidakis, M. J., Jardel, C., Allouche, S., Nelson, I., Aure, K., Slama, A., Lemiere, I., Thenint, J. P., Hamon, J. B., Zagnoli, F., Heron, D., Sedel, F., Lombes, A. (2014) Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity Mitochondrion . 15 (): 34-39 .