MITOMAP References for RNA Mutation A3251G

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Index PMID Date Reference
1 8265770 1993 Sweeney, M. G., Bundey, S., Brockington, M., Poulton, K. R., Winer, J. B., Harding, A. E. (1993) Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene Quarterly Journal of Medicine . 86 (11): 709-713 .
2 8786060 1996 Houshmand, M., Larsson, N. G., Oldfors, A., Tulinius, M., Holme, E. (1996) Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gene Human Genetics . 97 (3): 269-273 .
3 31965079 2020 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 .
4 29161289 2017 Queen, R. A., Steyn, J. S., Lord, P., Elson, J. L. (2017) Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications PLoS One 12 (11): e0187862 .
5 30837005 2019 Lahiri, D., Sawale, V. M., Banerjee, S., Dubey, S., Roy, B. K., Das, S. K. (2019) Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report Journal of Medical Case Reports . 13 (1): 63 .