MITOMAP References for Variant T3291C at 3291

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7520241 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 .
7603510 Goto, Y. (1995) Clinical features of MELAS and mitochondrial DNA mutations Muscle and Nerve . 3 (12): S107-S112 .
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 .
10899447 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 .
15870203 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 .
15477393 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
18165269 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 .
18977334 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 .
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 .
22471645 Ding, Y., Leng, J. (2012) Is mitochondrial tRNA Leu(UUR) 3291T>C mutation pathogenic? Mitochondrial DNA . 23 (4): 323-326 .
20943236 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 .
21863273 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 .
24338029 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 .
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 .
23273904 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 .
32167396 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 .
22538251 Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 .