MITOMAP References for RNA Mutation A4317G

• Ito, T., Hattori, K., Obayashi, T., Tanaka, M., Sugiyama, S., Ozawa, T. (1992) Mitochondrial DNA mutations in cardiomyopathy Japanese Circulation Journal . 56 (10): 1045-1053 .


• Tanaka, M., Ino, H., Ohno, K., Hattori, K., Sato, W., Ozawa, T., Tanaka, T., Itoyama, S. (1990) Mitochondrial mutation in fatal infantile cardiomyopathy Lancet . 336 (8728): 1452 .


• Tanaka, M., Obayashi, T., Yoneda, M., Kovalenko, S.A., Sugiyama, S., Ozawa, T. (1995) Mitochondrial DNA mutations in cardiomyopathy: combination of replacements yielding cysteine residues and tRNA mutations Muscle and Nerve . 3 (9): S165-169 .


• 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 .


• Degoul, F., Brule, H., Cepanec, C., Helm, M., Marsac, C., Leroux, J., Giege, R., Florentz, C. (1998) Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene Human Molecular Genetics . 7 (3): 347-354 .


• Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .


• Zhu, H. Y., Wang, S. W., Liu, L., Chen, R., Wang, L., Gong, X. L., Zhang, M. L. (2009) Genetic variants in mitochondrial tRNA genes are associated with essential hypertension in a Chinese Han population Clinica Chimica Acta . 410 (40545): 64-69 .