MITOMAP References for Variant ACCTTGC-GCAAGGT at 3902

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Index PMID Date Reference
1 2125637 1990 Bet, L., Bresolin, N., Moggio, M., Meola, G., Prelle, A., Schapira, A. H., Binzoni, T., Chomyn, A., Fortunato, F., Cerretelli, P., et al. (1990) A case of mitochondrial myopathy, lactic acidosis and complex I deficiency Journal of Neurology . 237 (7): 399-404 .
2 10775530 2000 Musumeci, O., Andreu, A. L., Shanske, S., Bresolin, N., Comi, G. P., Rothstein, R., Schon, E. A., DiMauro, S. (2000) Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy American Journal of Human Genetics . 66 (6): 1900-1904 .
3 16492986 2006 Blakely, E. L., Rennie, K. J., Jones, L., Elstner, M., Chrzanowska-Lightowlers, Z. M., White, C. B., Shield, J. P., Pilz, D. T., Turnbull, D. M., Poulton, J., Taylor, R. W. (2006) Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis Pediatric Research . 59 (3): 440-444 .
4 27290639 2016 Pronicka, E., Piekutowska-Abramczuk, D., Ciara, E., Trubicka, J., Rokicki, D., Karkucinska-Wieckowska, A., Pajdowska, M., Jurkiewicz, E., Halat, P., Kosinska, J., Pollak, A., Rydzanicz, M., Stawinski, P., Pronicki, M., Krajewska-Walasek, M., Ploski, R. (2016) New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre Journal of Translational Medicine . 14 (1): 174 .
5 34135385 2021 Nuber, F., Schimpf, J., di Rago, J. P., Tribouillard-Tanvier, D., Procaccio, V., Martin-Negrier, M. L., Trimouille, A., Biner, O., von Ballmoos, C., Friedrich, T. (2021) Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I Scientific Reports . 11 (1): 12641 .
6 35234296 2022 Hoeser, F., Weiss, M., Friedrich, T. (2022) The clinically relevant triple mutation in the mtND1 gene inactivates Escherichia coli complex I FEBS Letters . 596 (9): 1124-1132 .