MITOMAP References for Variant A5537insT at 5537

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Index PMID Date Reference
1 9266739 1997 Santorelli, F. M., Tanji, K., Sano, M., Shanske, S., El-Shahawi, M., Kranz-Eble, P., DiMauro, S., De Vivo, D. C. (1997) Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene Annals of Neurology . 42 (2): 256-260 .
2 10862082 2000 Rubio-Gozalbo, M. E., Dijkman, K. P., van den Heuvel, L. P., Sengers, R. C., Wendel, U., Smeitink, J. A. (2000) Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations Human Mutation . 15 (6): 522-532 .
3 12776230 2003 Tulinius, M., Moslemi, A. R., Darin, N., Westerberg, B., Wiklund, L. M., Holme, E., Oldfors, A. (2003) Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene Neuropediatrics . 34 (2): 87-91 .
4 14681757 2003 Darin, N., Moslemi, A. R., Lebon, S., Rustin, P., Holme, E., Oldfors, A., Tulinius, M. (2003) Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency Neuropediatrics. . 34 (6): 311-317 .
5 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 .
6 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 .