| 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 | 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 . |
| 4 | 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 . |
| 5 | 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 . |