MITOMAP References for Mutation ACCTTGC-GCAAGGT at 3902

Download PMID list

Index PMID Date Reference
1 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 .
2 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 .
3 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 .