MITOMAP References for Variant 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 27409572 2016 Imai, A., Kishita, Y., Nakayama, Y., Fujita, S., Futatani, T., Kohda, M., Yatsuka, Y., Nakaya, A., Sakata, Y., Murayama, K., Ohtake, A., Okazaki, Y. (2016) Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy International Journal of Cardiology . 221 (): 446-449 .
5 26741492 2016 Kohda, M., Tokuzawa, Y., Kishita, Y., Nyuzuki, H., Moriyama, Y., Mizuno, Y., Hirata, T., Yatsuka, Y., Yamashita-Sugahara, Y., Nakachi, Y., Kato, H., Okuda, A., Tamaru, S., Borna, N. N., Banshoya, K., Aigaki, T., Sato-Miyata, Y., Ohnuma, K., Suzuki, T., Nagao, A., Maehata, H., Matsuda, F., Higasa, K., Nagasaki, M., Yasuda, J., Yamamoto, M., Fushimi, T., Shimura, M., Kaiho-Ichimoto, K., Harashima, H., Yamazaki, T., Mori, M., Murayama, K., Ohtake, A., Okazaki, Y. (2016) A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies PLoS Genetics . 12 (1): e1005679 .
6 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 .
7 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 .
8 30642647 2019 Imai-Okazaki, A., Kishita, Y., Kohda, M., Mizuno, Y., Fushimi, T., Matsunaga, A., Yatsuka, Y., Hirata, T., Harashima, H., Takeda, A., Nakaya, A., Sakata, Y., Kogaki, S., Ohtake, A., Murayama, K., Okazaki, Y. (2019) Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background International Journal of Cardiology . 279 (): 115-121 .
9 33180048 2021 Zigman, T., Sikic, K., Petkovic Ramadza, D., Mayr, J., Wortmann, S., Prokisch, H., Ninkovic, D., Dilber, D., Saric, D., Rubic, F., Galic, S., Slavicek, J., Belina, D., Fumic, K., Baric, I. (2021) ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis Journal of Pediatric Endrocrinology and Metabolism . 34 (3): 389-393 .