MITOMAP References for Variant G5650A at 5650

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Index PMID Date Reference
1 11715067 2001 Finnila, S., Tuisku, S., Herva, R., Majamaa, K. (2001) A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL Journal of Molecular Medicine . 79 (11): 641-647 .
2 17825557 2008 McFarland, R., Swalwell, H., Blakely, E. L., He, L., Groen, E. J., Turnbull, D. M., Bushby, K. M., Taylor, R. W. (2008) The m.5650G>A mitochondrial tRNA(Ala) mutation is pathogenic and causes a phenotype of pure myopathy Neuromuscular Disorders . 18 (1): 63-67 .
3 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 .
4 25652200 2015 Gorman, G. S., Schaefer, A. M., Ng, Y., Gomez, N., Blakely, E. L., Alston, C. L., Feeney, C., Horvath, R., Yu-Wai-Man, P., Chinnery, P. F., Taylor, R. W., Turnbull, D. M., McFarland, R. (2015) Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease Annals of Neurology . 77 (5): 753-759 .
5 27626666 2016 Kauppila, J. H. K., Baines, H. L., Bratic, A., Simard, M. L., Freyer, C., Mourier, A., Stamp, C., Filograna, R., Larsson, N. G., Greaves, L. C., Stewart, J. B. (2016) A phenotype-driven approach to generate mouse models with pathogenic mtDNA mutations causing mitochondrial disease Cell Reports . 16 (11): 2980-2990 .
6 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
7 30250142 2018 Gammage, P. A., Viscomi, C., Simard, M. L., Costa, A. S. H., Gaude, E., Powell, C. A., Van Haute, L., McCann, B. J., Rebelo-Guiomar, P., Cerutti, R., Zhang, L., Rebar, E. J., Zeviani, M., Frezza, C., Stewart, J. B., Minczuk, M. (2018) Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo Nature Medicine . 24 (11): 1691-1695 .
8 31181796 2019 Kwon, S., Kim, S. S., Nebeck, H. E., Ahn, E. H. (2019) Immortalization of different breast epithelial cell types results in distinct mitochondrial mutagenesis International Journal of Molecular Sciences . 20 (11): 2813 .
9 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 .
10 34050192 2021 Zekonyte, U., Bacman, S. R., Smith, J., Shoop, W., Pereira, C. V., Tomberlin, G., Stewart, J., Jantz, D., Moraes, C. T. (2021) Mitochondrial targeted meganuclease as a platform to eliminate mutant mtDNA in vivo Nature Communications . 12 (1): 3210 .