MITOMAP References for RNA Mutation G8328A

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Index PMID Date Reference
1 10090475 1999 Houshmand, M., Lindberg, C., Moslemi, A.R., Oldfors, A., Holme, E. (1999) A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring Human Mutation . 13 (3): 203-209 .
2 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
3 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 .
4 17410322 2007 Blakely, E. L., Swalwell, H., Petty, R. K., McFarland, R., Turnbull, D. M., Taylor, R. W. (2007) Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation Journal of Neurology . 254 (9): 1283-1285 .
5 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 .
6 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 .