MITOMAP References for Variant T-C at 8403

Download PMID list

Index PMID Date Reference
1 24153443 2013 Aure, K., Dubourg, O., Jardel, C., Clarysse, L., Sternberg, D., Fournier, E., Laforet, P., Streichenberger, N., Petiot, P., Gervais-Bernard, H., Vial, C., Bedat-Millet, A. L., Drouin-Garraud, V., Bouillaud, F., Vandier, C., Fontaine, B., Lombes, A. (2013) Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations Neurology . 81 (21): 1810-1818 .
2 37340059 2023 Panja, C., Niedzwiecka, K., Baranowska, E., Poznanski, J., Kucharczyk, R. (2023) Analysis of MT-ATP8 gene variants reported in patients by modeling in silico and in yeast model organism Scientific Reports . 13 (1): 9972 .
3 40112238 2025 Carli, S., Levarlet, A., Diodato, D., Bertini, E. S., Martinelli, D., Malandrini, A., Lopergolo, D., Gallus, G. N., Ganetzky, R. D., La Morgia, C., Carelli, V., Primiano, G., Dominguez-Gonzalez, C., Serrano-Lorenzo, P., Martin, M. A., Ardissone, A., Lamperti, C., Nicoletta, V., Klopstock, T., Distelmaier, F., Zeng, L., Buchner, B., Mancuso, M., Schuelke, M., Prigione, A., Garone, C. (2025) Natural history of patients with mitochondrial ATPase deficiency due to pathogenic variants of MT-ATP6 and MT-ATP8 Neurology . 104 (7): e213462 .