MITOMAP References for RNA Mutation A1630G

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Index PMID Date Reference
1 19252805 2009 Horvath, R., Bender, A., Abicht, A., Holinski-Feder, E., Czermin, B., Trips, T., Schneiderat, P., Lochmuller, H., Klopstock, T. (2009) Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia Journal of Neurology . 256 (5): 810-815 .
2 21540128 2011 Glatz, C., D'Aco, K., Smith, S., Sondheimer, N. (2011) Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes Mitochondrion . 11 (4): 615-619 .
3 29428506 2018 Ganetzky, R. D., Falk, M. J. (2018) 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease Molecular Genetics and Metabolism . 123 (3): 301-308 .