MITOMAP References for Mutation T-C at 3308

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Index PMID Date Reference
1 9299504 1997 Campos, Y., Martin, M.A., Rubio, J.C., Gutierrez del Olmo, M.C., Cabello, A., Arenas, J. (1997) Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene Biochemical and Biophysical Research Communications . 238 (2): 323-325 .
2 10371545 1999 Sue, C. M., Tanji, K., Hadjigeorgiou, G., Andreu, A. L., Nishino, I., Krishna, S., Bruno, C., Hirano, M., Shanske, S., Bonilla, E., Fischel-Ghodsian, N., DiMauro, S., Friedman, R. (1999) Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene Neurology . 52 (9): 1905-1908 .
3 10521313 1999 Rocha, H., Flores, C., Campos, Y., Arenas, J., Vilarinho, L., Santorelli, F.M., Torroni, A. (1999) About the 'pathological' role of the mtDNA T3308C mutation... American Journal of Human Genetics . 65 (5): 1457-1459 .
4 12160969 2002 Opdal, S. H., Vege, A., Egeland, T., Musse, M. A., Rognum, T. O. (2002) Possible role of mtDNA mutations in sudden infant death Pediatric Neurology . 27 (1): 23-29 .
5 10519336 1999 Opdal, S. H., Rognum, T. O., Torgersen, H., Vege, A. (1999) Mitochondrial DNA point mutations detected in four cases of sudden infant death syndrome Acta Paediatrica . 88 (9): 957-960 .
6 10070626 1999 Vilarinho, L., Chorao, R., Cardoso, M. L., Rocha, H., Nogueira, C., Santorelli, F. M. (1999) The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients Journal of Inherited Metabolic Disease . 22 (1): 90-91 .
7 14960712 2004 Li, X., Fischel-Ghodsian, N., Schwartz, F., Yan, Q., Friedman, R. A., Guan, M. X. (2004) Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness Nucleic Acids Research . 32 (3): 867-77 .
8 15972314 2006 Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 .
9 10924280 2000 Fernandez-Moreno, M. A., Bornstein, B., Campos, Y., Arenas, J., Garesse, R. (2000) The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes Molecular Genetics and Metabolism . 70 (3): 238-240 .
10 18194667 2008 Liu, Y., Li, Z., Yang, L., Wang, S., Guan, M. X. (2008) The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension Biochemical and Biophysical Research Communications . 368 (1): 18-22 .
11 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
12 22777272 2012 Salas, A., Elson, J. L. (2012) Raising doubts about the pathogenicity of mitochondrial DNA mutation m.3308T>C in left ventricular hypertraveculation/noncompaction Cardiology . 122 (2): 113-115 .
13 21625124 2011 Zarrouk Mahjoub, S., Mehri, S., Ourda, F., Boussaada, R., Mechmeche, R., Arab, S. B., Finsterer, J. (2011) Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction Cardiology . 118 (3): 153-158 .
14 21968326 2011 Ding, Y., Zhu, H. (2011) The mitochondrial ND1 3308T>C mutation may not be associated with left ventricular hypertrabeculation/noncompaction Cardiology . 119 (3): 183; author reply 184-185 .
15 22777278 2012 Zarrouk Mahjoub, S., Mehri, S., Ourda, F., Boussaada, R., Mechmeche, R., Ben Arab, S., Finsterer, J. (2012) Pathogenicity of the transition m.3308T>C in left ventricular hypertrabeculation/noncompaction Cardiology . 122 (2): 116-118 .
16 29987491 2018 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .