MITOMAP References for Variant A3302G at 3302

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PMID Reference
8366098 Bindoff, L. A., Howell, N., Poulton, J., McCullough, D. A., Morten, K. J., Lightowlers, R. N., Turnbull, D. M., Weber, K. (1993) Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism Journal of Biological Chemistry . 268 (26): 19559-19564 .
NA Shoffner, J. M., Krawiecki, N., Cabell, M. F., Torroni, A., Wallace, D. C. (1993) A novel tRNALeu(UUR) mutation in childhood mitochondrial myopathy American Journal of Human Genetics . 53 (Suppl.): 949 .
7635294 Howell, N., Kubacka, I., Halvorson, S., Howell, B., McCullough, D. A., Mackey, D. (1995) Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees Genetics . 140 (1): 285-302 .
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 (https://www.biorxiv.org/content/10.1101/798264v3): 798264 .
31965079 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
16050991 Meierhofer, D., Mayr, J. A., Ebner, S., Sperl, W., Kofler, B. (2005) Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations Mitochondrion . 5 (4): 282-296 .
15477393 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
7735877 Jackson, M. J., Schaefer, J. A., Johnson, M. A., Morris, A. A., Turnbull, D. M., Bindoff, L. A. (1995) Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients Brain . 118 (Pt 2): 339-57 .
17130166 Maniura-Weber, K., Helm, M., Engemann, K., Eckertz, S., Mollers, M., Schauen, M., Hayrapetyan, A., von Kleist-Retzow, J. C., Lightowlers, R. N., Bindoff, L. A., Wiesner, R. J. (2006) Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene Nucleic Acids Research . 34 (22): 6404-6415 .
19370763 Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 .
20064630 Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .
29161289 Queen, R. A., Steyn, J. S., Lord, P., Elson, J. L. (2017) Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications PLoS One 12 (11): e0187862 .