| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 28412374 | 2017 | Jackson, C. B., Hahn, D., Schroter, B., Richter, U., Battersby, B. J., Schmitt-Mechelke, T., Marttinen, P., Nuoffer, J. M., Schaller, A. (2017) A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy European Journal of Medical Genetics . 60 (6): 345-351 . |