MITOMAP References for Variant G-A at 8969

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NA Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub ( 798264 .
25037980 Burrage, L. C., Tang, S., Wang, J., Donti, T. R., Walkiewicz, M., Luchak, J. M., Chen, L. C., Schmitt, E. S., Niu, Z., Erana, R., Hunter, J. V., Graham, B. H., Wong, L. J., Scaglia, F. (2014) Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene Molecular Genetics and Metabolism . 113 (3): 207-212 .
30763462 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 .
29350304 Isohanni, P., Carroll, C. J., Jackson, C. B., Pohjanpelto, M., Lonnqvist, T., Suomalainen, A. (2018) Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth Neurogenetics . 19 (1): 49-53 .
27450679 Sallevelt, S. C., de Die-Smulders, C. E., Hendrickx, A. T., Hellebrekers, D. M., de Coo, I. F., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R., Smeets, H. J. (2017) De novo mtDNA point mutations are common and have a low recurrence risk Journal of Medical Genetics . 54 (2): 73-83 .
27812026 Wen, S., Niedzwiecka, K., Zhao, W., Xu, S., Liang, S., Zhu, X., Xie, H., Tribouillard-Tanvier, D., Giraud, M. F., Zeng, C., Dautant, A., Kucharczyk, R., Liu, Z., di Rago, J. P., Chen, H. (2016) Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy Scientific Reports . 6 (): 36313 .