| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 19941338 | 2010 | Wibrand, F., Jeppesen, T. D., Frederiksen, A. L., Olsen, D. B., Duno, M., Schwartz, M., Vissing, J. (2010) Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations Muscle and Nerve . 41 (5): 607-613 . |
| 2 | 23376095 | 2013 | Krag, T. O., Hauerslev, S., Jeppesen, T. D., Duno, M., Vissing, J. (2013) Muscle regeneration in mitochondrial myopathies Mitochondrion . 13 (2): 63-70 . |
| 3 | 23838278 | 2013 | Jeppesen, T. D., Orngreen, M. C., Van Hall, G., Vissing, J. (2013) Lactate metabolism during exercise in patients with mitochondrial myopathy Neuromuscular Disorders . 23 (8): 629-636 . |
| 4 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 5 | 24161205 | 2014 | Jeppesen, T. D., Duno, M., Risom, L., Wibrand, F., Krag, T., Jakobsen, J., Andersen, H., Vissing, J. (2014) A novel de novo mutation of the mitochondrial tRNA gene mt.8340G>A associated with pure myopathy Neuromuscular Disorders . 24 (2): 162-166 . |
| 6 | 28729369 | 2017 | Gill, J. S., Hardy, S. A., Blakely, E. L., Hopton, S., Nemeth, A. H., Fratter, C., Poulton, J., Taylor, R. W., Downes, S. M. (2017) Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant British Journal of Ophthalmology . 101 (9): 1298-1302 . |
| 7 | 29501485 | 2019 | Tarnopolsky, M. A., Sundaram, A. N. E., Provias, J., Brady, L., Sadikovic, B. (2019) CPEO - like mitochondrial myopathy associated with m.8340G>A mutation Mitochondrion . 46 (): 69-72 . |
| 8 | 32970680 | 2020 | Toncheva, D., Serbezov, D., Karachanak-Yankova, S., Nesheva, D. (2020) Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease PLoS One 15 (9): e0233666 . |