MITOMAP References for Variant G5703A at 5703

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PMID Reference
8254046 Moraes, C. T., Ciacci, F., Bonilla, E., Jansen, C., Hirano, M., Rao, N., Lovelace, R. E., Rowland, L. P., Schon, E. A., DiMauro, S. (1993) Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot? Journal of Clinical Investigation . 92 (6): 2906-2915 .
9372914 Hao, H., Moraes, C. T. (1997) A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn) Molecular and Cellular Biology . 17 (12): 6831-6837 .
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 .
14518831 Vives-Bauza, C., Del Toro, M., Solano, A., Montoya, J., Andreu, A. L., Roig, M. (2003) Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA Journal of Inherited Metabolic Disease . 26 (5): 507-508 .
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 .
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 .
31268906 Finsterer, J. (2019) Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus? Chinese Medical Journal (English) . 132 (14): 1752 .
30897601 Fu, J., Ma, M. M., Pang, M., Yang, L., Li, G., Song, J., Zhang, J. W. (2019) Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome Chinese Medical Journal (English) . 132 (7): 865-867 .
32419253 Zereg, E., Chaussenot, A., Morel, G., Bannwarth, S., Sacconi, S., Soriani, M. H., Attarian, S., Cano, A., Pouget, J., Bellance, R., Tranchant, C., Lannes, B., de Paula, A. M., Saadi Ait-El-Mkadem, S., Chafino, B., Berthet, M., Fragaki, K., Paquis-Flucklinger, V., Rouzier, C. (2020) Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases Human Mutation . 41 (8): 1394-1406 .
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 .