| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 2567271 | 1989 | Vilkki, J., Savontaus, M.L., Kalimo, H., Nikoskelainen, E.K. (1989) Mitochondrial DNA polymorphism in Finnish families with Leber's hereditary optic neuroretinopathy Human Genetics . 82 (3): 208-212 . |
| 2 | 12802679 | 2003 | Lehtonen, M. S., Moilanen, J. S., Majamaa, K. (2003) Increased variation in mtDNA in patients with familial sensorineural hearing impairment Human Genetics . 113 (3): 220-227 . |
| 3 | 15120634 | 2004 | Ruppert, V., Nolte, D., Aschenbrenner, T., Pankuweit, S., Funck, R., Maisch, B. (2004) Novel point mutations in the mitochondrial DNA detected in patients with dilated cardiomyopathy by screening the whole mitochondrial genome Biochemical and Biophysical Research Communications . 318 (2): 535-543 . |
| 4 | 17406640 | 2007 | Puomila, A., Hamalainen, P., Kivioja, S., Savontaus, M. L., Koivumaki, S., Huoponen, K., Nikoskelainen, E. (2007) Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland European Journal of Human Genetics . 15 (10): 1079-1089 . |
| 5 | 19370763 | 2009 | Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 . |
| 6 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 7 | 31152278 | 2020 | Kytovuori, L., Junttila, J., Huikuri, H., Keinanen-Kiukaanniemi, S., Majamaa, K., Martikainen, M. H. (2020) Mitochondrial DNA variation in sudden cardiac death: a population-based study International Journal of Legal Medicine . 134 (1): 39-44 . |