MITOMAP References for Mutation T-TT at 8618

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Index PMID Date Reference
1 19124644 2009 Lopez-Gallardo, E., Solano, A., Herrero-Martin, M. D., Martinez-Romero, I., Castano-Perez, M. D., Andreu, A. L., Herrera, A., Lopez-Perez, M. J., Ruiz-Pesini, E., Montoya, J. (2009) NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein Journal of Medical Genetics . 46 (1): 64-67 .
2 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 .
3 32042910 2020 Bugiardini, E., Bottani, E., Marchet, S., Poole, O. V., Beninca, C., Horga, A., Woodward, C., Lam, A., Hargreaves, I., Chalasani, A., Valerio, A., Lamantea, E., Venner, K., Holton, J. L., Zeviani, M., Houlden, H., Quinlivan, R., Lamperti, C., Hanna, M. G., Pitceathly, R. D. S. (2020) Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations Neurology. Genetics . 6 (1): e381 .