MITOMAP References for Mutation A-T at 13084

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1 12796552 2003 Crimi, M., Galbiati, S., Moroni, I., Bordoni, A., Perini, M. P., Lamantea, E., Sciacco, M., Zeviani, M., Biunno, I., Moggio, M., Scarlato, G., Comi, G. P. (2003) A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome Neurology . 60 (11): 1857-1861 .
2 34298071 2021 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 .
3 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 .
4 18332249 2008 Shanske, S., Coku, J., Lu, J., Ganesh, J., Krishna, S., Tanji, K., Bonilla, E., Naini, A. B., Hirano, M., DiMauro, S. (2008) The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases Archives of Neurology . 65 (3): 368-372 .
5 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 .