MITOMAP References for RNA Mutation G8340A

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Index PMID Date Reference
1 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 .
2 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 .
3 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 .
4 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 .
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 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 .
7 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 .
8 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .