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 . |