MITOMAP References for Mutation T-C at 8528

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Index PMID Date Reference
1 19188198 2009 Ware, S. M., El-Hassan, N., Kahler, S. G., Zhang, Q., Ma, Y. W., Miller, E., Wong, B., Spicer, R. L., Craigen, W. J., Kozel, B. A., Grange, D. K., Wong, L. J. (2009) Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes Journal of Medical Genetics . 46 (5): 308-314 .
2 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 .
3 26803244 2016 Imai, A., Fujita, S., Kishita, Y., Kohda, M., Tokuzawa, Y., Hirata, T., Mizuno, Y., Harashima, H., Nakaya, A., Sakata, Y., Takeda, A., Mori, M., Murayama, K., Ohtake, A., Okazaki, Y. (2016) Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein International Journal of Cardiology . 207 (): 203-205 .
4 30763462 2019 Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 .