MITOMAP References for Variant G-A at 14453

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Index PMID Date Reference
1 11781695 2001 Ravn, K., Wibrand, F., Hansen, F.J., Horn, N., Rosenberg, T., Schwartz, M. (2001) An mtDNA mutation, 14453G-A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome European Journal of Human Genetics . 9 (10): 805-809 .
2 15972314 2006 Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 .
3 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
4 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 .
5 24642831 2014 Nesbitt, V., Alston, C. L., Blakely, E. L., Fratter, C., Feeney, C. L., Poulton, J., Brown, G. K., Turnbull, D. M., Taylor, R. W., McFarland, R. (2014) A national perspective on prenatal testing for mitochondrial disease European Journal of Human Genetics . 22 (11): 1255-1259 .
6 29987491 2018 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .
7 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): .
8 32552696 2020 Yokota, Y., Hara, M., Akimoto, T., Mizoguchi, T., Goto, Y. I., Nishino, I., Kamei, S., Nakajima, H. (2020) Late-onset MELAS syndrome with mtDNA 14453G-->A mutation masquerading as an acute encephalitis: a case report BMC Neurology . 20 (1): 247 .
9 33644659 2021 Maruo, Y., Ueda, Y., Murayama, K., Takeda, A. (2021) A case report of Leigh syndrome diagnosed by endomyocardial biopsy European Heart Journal. Case Reports . 5 (2): ytaa582 .
10 34933128 2021 Shimura, M., Onuki, T., Sugiyama, Y., Matsuhashi, T., Ebihara, T., Fushimi, T., Tajika, M., Ichimoto, K., Matsunaga, A., Tsuruoka, T., Nitta, K. R., Imai-Okazaki, A., Yatsuka, Y., Kishita, Y., Ohtake, A., Okazaki, Y., Murayama, K. (2021) Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G>A Mitochondrion . ePub ahead of print, (): .