MITOMAP References for RNA Mutation A15923G

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Index PMID Date Reference
1 1379415 1992 Brown, M. D., Torroni, A., Shoffner, J. M., Wallace, D. C. (1992) Mitochondrial tRNAThr mutations and lethal infantile mitochondrial myopathy American Journal of Human Genetics . 51 (2): 446-447 .
2 1645537 1991 Yoon, K. L., Aprille, J. R., Ernst, S. G. (1991) Mitochondrial tRNAThr mutation in fatal infantile respiratory enzyme deficiency Biochemical and Biophysical Research Communications . 176 (3): 1112-1115 .
3 8511015 1993 Yoon, K. L., Ernst, S. G., Rasmussen, C., Dooling, E. C., Aprille, J. R. (1993) Mitochondrial disorder associated with newborn cardiopulmonary arrest Pediatric Research . 33 (5): 433-440 .
4 22638997 2012 Del Mar O'Callaghan, M., Emperador, S., Lopez-Gallardo, E., Jou, C., Bujan, N., Montero, R., Garcia-Cazorla, A., Gonzaga, D., Ferrer, I., Briones, P., Ruiz-Pesini, E., Pineda, M., Artuch, R., Montoya, J. (2012) New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset Neurogenetics . 13 (3): 245-250 .
5 30236074 2018 Karppa, M., Kytovuori, L., Saari, M., Majamaa, K. (2018) Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype BMC Neurology . 18 (1): 149 .