MITOMAP References for Variant G8340A at 8340

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PMID Reference
28729369 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 .
19941338 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 .
23376095 Krag, T. O., Hauerslev, S., Jeppesen, T. D., Duno, M., Vissing, J. (2013) Muscle regeneration in mitochondrial myopathies Mitochondrion . 13 (2): 63-70 .
23838278 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 .
24161205 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 .
29501485 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 .
32970680 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 .
NA van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .