MITOMAP References for RNA Mutation G8342A

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Index PMID Date Reference
1 10220860 1999 Tiranti, V., Carrara, F., Confalonieri, P., Mora, M., Maffei, R. M., Lamantea, E., Zeviani, M. (1999) A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus Neuromuscular Disorders . 9 (2): 66-71 .
2 15100439 2004 Sissler, M., Helm, M., Frugier, M., Giege, R., Florentz, C. (2004) Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants RNA . 10 (5): 841-853 .
3 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
4 19718780 2009 Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 .
5 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 .