| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 27761019 | 2016 | Xu, B., Li, X., Du, M., Zhou, C., Fang, H., Lyu, J., Yang, Y. (2016) Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome Journal of Human Genetics . 62 (2): 291-297 . |
| 2 | 29987491 | 2018 | O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 . |