MITOMAP References for Variant G5591A at 5591

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Index	PMID	Date	Reference
1	16476954	2006	Swalwell, H., Deschauer, M., Hartl, H., Strauss, M., Turnbull, D. M., Zierz, S., Taylor, R. W. (2006) Pure myopathy associated with a novel mitochondrial tRNA gene mutation Neurology . 66 (3): 447-449 .
2	19718780	2009	Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 .
3	29139113	2018	Kraya, T., Deschauer, M., Joshi, P. R., Zierz, S., Gaul, C. (2018) Prevalence of headache in patients with mitochondrial disease: a cross-sectional study Headache . 58 (1): 45-52. Erratum: Headache 58(2): 358 .
4	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 .
5	40241304	2025	Stenton, S. L., Laricchia, K., Lake, N. J., Chaluvadi, S., Ganesh, V., DiTroia, S., Osei-Owusu, I., Pais, L., O'Heir, E., Austin-Tse, C., O'Leary, M., Abu Shanap, M., Barrows, C., Berger, S., Bonnemann, C. G., Bujakowska, K. M., Campagna, D. R., Compton, A. G., Donkervoort, S., Fleming, M. D., Gallacher, L., Gleeson, J. G., Haliloglu, G., Pierce, E. A., Place, E. M., Sankaran, V. G., Shimamura, A., Stark, Z., Tan, T. Y., Thorburn, D. R., White, S. M., Zaki, M. S., Genomics Research to Elucidate the Genetics of Rare Diseases Consortium, Vilain, E., Lek, M., Rehm, H. L., O'Donnell-Luria, A. (2025) Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases Human Genetics and Genomics Advances . 6 (3): 100441 .