MITOMAP References for RNA Mutation T3291C

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Index PMID Date Reference
1 7520241 1994 Goto, Y., Tsugane, K., Tanabe, Y., Nonaka, I., Horai, S. (1994) A new point mutation at nucelotide pair 3291 of the tRNALeu(UUR) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) Biochemical and Biophysical Research Communications . 202 (3): 1624-1630 .
2 7603510 1995 Goto, Y. (1995) Clinical features of MELAS and mitochondrial DNA mutations Muscle and Nerve . 3 (12): S107-S112 .
3 31965079 2020 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 .
4 10899447 2000 Uziel, G., Carrara, F., Granata, T., Lamantea, E., Mora, M., Zeviani, M. (2000) Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case Neuromuscular Disorders . 10 (6): 415-418 .
5 15870203 2005 Kirino, Y., Goto, Y. I., Campos, Y., Arenas, J., Suzuki, T. (2005) Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease Proceedings of the National Academy of Sciences of the United States of America . 102 (20): 7127-7132 .
6 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
7 18165269 2008 Lim, K. S., Naviaux, R. K., Wong, S., Haas, R. H. (2008) Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation Journal of Molecular Diagnostics . 10 (1): 102-108 .
8 18977334 2009 Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 .
9 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 .
10 22471645 2012 Ding, Y., Leng, J. (2012) Is mitochondrial tRNA Leu(UUR) 3291T>C mutation pathogenic? Mitochondrial DNA . 23 (4): 323-326 .
11 20943236 2011 Salsano, E., Giovagnoli, A. R., Morandi, L., Maccagnano, C., Lamantea, E., Marchesi, C., Zeviani, M., Pareyson, D. (2011) Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation Journal of the Neurological Sciences . 300 (1-2): 165-168 .
12 21863273 2011 Sunami, Y., Sugaya, K., Chihara, N., Goto, Y., Matsubara, S. (2011) Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation Neurological Sciences . 32 (5): 861-864 .
13 24338029 2014 Liu, K., Zhao, H., Ji, K., Yan, C. (2014) MERRF/MELAS overlap syndrome due to the m.3291T>C mutation Metabolic Brain Disease . 29 (1): 139-144 .
14 29161289 2017 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 .
15 23273904 2013 Yarham, J. W., Blakely, E. L., Alston, C. L., Roberts, M. E., Ealing, J., Pal, P., Turnbull, D. M., McFarland, R., Taylor, R. W. (2013) The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease Journal of the Neurological Sciences . 325 (1-2): 165-169 .
16 32167396 2020 Bulduk, B. K., Kilic, H. B., Bekircan-Kurt, C. E., Haliloglu, G., Erdem Ozdamar, S., Topaloglu, H., Kocaefe, Y. C. (2020) A novel amplification-refractory mutation system-PCR strategy to screen MT-TL1 pathogenic variants in patient repositories Genetic Testing and Molecular Biomarkers . 24 (3): 165-170 .
17 22538251 2012 Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 .