MITOMAP References for Variant G-A at 3376

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Index PMID Date Reference
1 15657614 2005 Blakely, E. L., de Silva, R., King, A., Schwarzer, V., Harrower, T., Dawidek, G., Turnbull, D. M., Taylor, R. W. (2005) LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation European Journal of Human Genetics . 13 (5): 623-627 .
2 22079202 2012 Patsi, J., Maliniemi, P., Pakanen, S., Hinttala, R., Uusimaa, J., Majamaa, K., Nystrom, T., Kervinen, M., Hassinen, I. E. (2012) LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1 Biochimica et Biophysica Acta . 1817 (2): 312-318 .
3 20301353 2021 Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): .