MITOMAP References for Variant G4450A at 4450

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Index PMID Date Reference
1 9384601 1998 Sternberg, D., Danan, C., Lombes, A., Laforet, P., Girodon, E., Goossens, M., Amselem, S. (1998) Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders Human Molecular Genetics . 7 (1): 33-42 .
2 11335700 2001 Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B., Lombes, A. (2001) Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders Brain . 124 (Pt 5): 984-994 .
3 25468263 2015 Born, A. P., Duno, M., Rafiq, J., Risom, L., Wibrand, F., Ostergaard, E., Vissing, J. (2015) A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood European Journal of Paediatric Neurology . 19 (1): 69-71 .
4 30739820 2019 Kuwajima, M., Goto, M., Kurane, K., Shimbo, H., Omika, N., Jimbo, E. F., Muramatsu, K., Tajika, M., Shimura, M., Murayama, K., Kurosawa, K., Yamagata, T., Osaka, H. (2019) MELAS syndrome with m.4450 G>A mutation in mitochondrial tRNA(Met) gene Brain and Development . 41 (5): 465-469 .
5 30952460 2019 Finsterer, J. (2019) Exclusive affection of the brain in m.4450G>A carriers rather suggests Leigh syndrome than MELAS Brain and Development . 41 (8): 741 .