| Index | PMID | Date | Reference |
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| 1 | 19433277 | 2009 | Mkaouar-Rebai, E., Chaari, W., Younes, S., Bousoffara, R., Sfar, M. T., Fakhfakh, F. (2009) Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family Pediatric Neurology . 40 (6): 437-442 . |
| 2 | 19809478 | 2010 | Smits, P., Mattijssen, S., Morava, E., van den Brand, M., van den Brandt, F., Wijburg, F., Pruijn, G., Smeitink, J., Nijtmans, L., Rodenburg, R., van den Heuvel, L. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects European Journal of Human Genetics . 18 (3): 324-329 . |
| 3 | 27450679 | 2017 | Sallevelt, S. C., de Die-Smulders, C. E., Hendrickx, A. T., Hellebrekers, D. M., de Coo, I. F., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R., Smeets, H. J. (2017) De novo mtDNA point mutations are common and have a low recurrence risk Journal of Medical Genetics . 54 (2): 73-83 . |