MITOMAP References for RNA Mutation A4300G

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Index PMID Date Reference
1 7646516 1995 Casali, C., Santorelli, F. M., D'Amati, G., Bernucci, P., DeBiase, L., DiMauro, S. (1995) A novel mtDNA point mutation in maternally inherited cardiomyopathy Biochemical and Biophysical Research Communications . 213 (2): 588-593 .
2 10065021 1998 Arbustini, E., Fasani, R., Morbini, P., Diegoli, M., Grasso, M., Dal Bello, B., Marangoni, E., Banfi, P., Banchieri, N., Bellini, O., Comi, G., Narula, J., Campana, C., Gavazzi, A., Danesino, C., Vigano, M. (1998) Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure [published erratum appears in Heart 1999 Mar;81(3):330] Heart . 80 (6): 548-558 .
3 23847141 2013 Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 .
4 NA 2020 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 .
5 34146515 2021 Ng, Y. S., Bindoff, L. A., Gorman, G. S., Klopstock, T., Kornblum, C., Mancuso, M., McFarland, R., Sue, C. M., Suomalainen, A., Taylor, R. W., Thorburn, D. R., Turnbull, D. M. (2021) Mitochondrial disease in adults: recent advances and future promise [Review] Lancet Neurology . 20 (7): 573-584 .
6 12711217 2003 Carelli, V., Giordano, C., d'Amati, G. (2003) Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction Trends in Genetics . 19 (5): 257-262 .
7 12655007 2003 Levinger, L., Giege, R., Florentz, C. (2003) Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3' end processing efficiency in vitro Nucleic Acids Research . 31 (7): 1904-1912 .
8 12767666 2003 Taylor, R. W., Giordano, C., Davidson, M. M., d'Amati, G., Bain, H., Hayes, C. M., Leonard, H., Barron, M. J., Casali, C., Santorelli, F. M., Hirano, M., Lightowlers, R. N., DiMauro, S., Turnbull, D. M. (2003) A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy Journal of the American College of Cardiology . 41 (10): 1786-1796 .
9 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
10 20064630 2010 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 .
11 10334428 1999 Casali, C., d'Amati, G., Bernucci, P., DeBiase, L., Autore, C., Santorelli, F. M., Coviello, D., Gallo, P. (1999) Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid Journal of the American College of Cardiology . 33 (6): 1584-1589 .