MITOMAP References for Variant T616C at 616

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PMID Reference
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 (https://www.biorxiv.org/content/10.1101/798264v3): 798264 .
31965079 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
20142618 Zsurka, G., Hampel, K. G., Nelson, I., Jardel, C., Mirandola, S. R., Sassen, R., Kornblum, C., Marcorelles, P., Lavoue, S., Lombes, A., Kunz, W. S. (2010) Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene Neurology . 74 (6): 507-512 .
28267784 Connor, T. M., Hoer, S., Mallett, A., Gale, D. P., Gomez-Duran, A., Posse, V., Antrobus, R., Moreno, P., Sciacovelli, M., Frezza, C., Duff, J., Sheerin, N. S., Sayer, J. A., Ashcroft, M., Wiesener, M. S., Hudson, G., Gustafsson, C. M., Chinnery, P. F., Maxwell, P. H. (2017) Mutations in mitochondrial DNA causing tubulointerstitial kidney disease PLoS Genetics . 13 (3): e1006620 .
31722346 Lorenz, R., Ahting, U., Betzler, C., Heimering, S., Borggrafe, I., Lange-Sperandio, B. (2020) Homoplasmy of the mitochondrial DNA mutation m.616T>C leads to mitochondrial tubulointerstitial kidney disease and encephalopathia Nephron . 144 (3): 156-160 .