MITOMAP References for Variant G5650A at 5650

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PMID Reference
17825557 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 .
25652200 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 .
29253894 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 .
27626666 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 .
30250142 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 .
NA Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub ( 798264 .
34050192 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 .
11715067 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 .
19718780 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 .
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 .