MITOMAP References for Variant A1630G at 1630

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Index PMID Date Reference
1 30809469 2019 Finsterer, J. (2019) Pathogenicity of the m.1630A>G variant remains elusive if related mutation carriers with similar heteroplasmy rates are asymptomatic Molecular Genetics and Metabolism Reports . 19 (): 100461 .
2 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 .
3 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 .
4 30815362 2019 Gropman, A., Chiaramello, A. (2019) The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant Molecular Genetics and Metabolism Reports . 19 (): 100462 .
5 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 .
6 31181796 2019 Kwon, S., Kim, S. S., Nebeck, H. E., Ahn, E. H. (2019) Immortalization of different breast epithelial cell types results in distinct mitochondrial mutagenesis International Journal of Molecular Sciences . 20 (11): 2813 .
7 23463613 2013 Tang, S., Wang, J., Zhang, W., Li, F., Landsverk, M., Cui, H., Truong, C., Wang, G., Li, C., Graham, B., Scaglia, F., Schmitt, E. S., Craigen, W. J., Wong, L. C. (2013) Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects Human Mutation . 34 (6): 882-893 Most reported SNVs are not found in the body of the paper itself but are listed in the supplemental information as Unclassified Variants.
8 30709774 2019 Uittenbogaard, M., Wang, H., Zhang, V. W., Wong, L. J., Brantner, C. A., Gropman, A., Chiaramello, A. (2019) The nuclear background influences the penetrance of the near-homoplasmic m.1630 A>G MELAS variant in a symptomatic proband and asymptomatic mother Molecular Genetics and Metabolism . 126 (4): 429-438 .
9 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 .