Index | PMID | Date | Reference |
---|---|---|---|
1 | 22348497 | 2012 | Tsai, J. D., Liu, C. S., Tsao, T. F., Sheu, J. N. (2012) A novel mitochondrial DNA 8597T>C mutation of Leigh syndrome: report of one case Pediatrics and Neonatology . 53 (1): 60-62 . |
2 | 30763462 | 2019 | Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 . |