MITOMAP References for Variant G-A at 3376

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PMID Reference
15657614 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 .
22079202 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 .
20301353 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 (): https://www.ncbi.nlm.nih.gov/books/NBK1174/ .
19001017 Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. (2009) Inherited mitochondrial optic neuropathies [Review] Journal of Medical Genetics . 46 (3): 145-158 .