MITOMAP References for Mutation T-C at 9032

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Index	PMID	Date	Reference
1	24986921	2014	Lopez-Gallardo, E., Emperador, S., Solano, A., Llobet, L., Martin-Navarro, A., Lopez-Perez, M. J., Briones, P., Pineda, M., Artuch, R., Barraquer, E., Jerico, I., Ruiz-Pesini, E., Montoya, J. (2014) Expanding the clinical phenotypes of MT-ATP6 mutations Human Molecular Genetics . 23 (23): 6191-6200 .
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	32581362	2020	Turro, E., Astle, W. J., Megy, K., Graf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., Stephens, J., Mapeta, R., Burren, O. S., Downes, K., Haimel, M., Tuna, S., Deevi, S. V. V., Aitman, T. J., Bennett, D. L., Calleja, P., Carss, K., Caulfield, M. J., Chinnery, P. F., Dixon, P. H., Gale, D. P., James, R., Koziell, A., Laffan, M. A., Levine, A. P., Maher, E. R., Markus, H. S., Morales, J., Morrell, N. W., Mumford, A. D., Ormondroyd, E., Rankin, S., Rendon, A., Richardson, S., Roberts, I., Roy, N. B. A., Saleem, M. A., Smith, K. G. C., Stark, H., Tan, R. Y. Y., Themistocleous, A. C., Thrasher, A. J., Watkins, H., Webster, A. R., Wilkins, M. R., Williamson, C., Whitworth, J., Humphray, S., Bentley, D. R., Nihr BioResource for the, G. P., Kingston, N., Walker, N., Bradley, J. R., Ashford, S., Penkett, C. J., Freson, K., Stirrups, K. E., Raymond, F. L., Ouwehand, W. H. (2020) Whole-genome sequencing of patients with rare diseases in a national health system Nature . 583 (7814): 96-102, supplementary data table 2. .
4	32931937	2020	Knight, K. M., Shelkowitz, E., Larson, A. A., Mirsky, D. M., Wang, Y., Chen, T., Wong, L. J., Friederich, M. W., Van Hove, J. L. K. (2020) The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome Mitochondrion . 55 (): 8-13 .