Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy

Co-occurrence of double pathogenic mtDNA mutations with different claimed pathological roles in one mtDNA is infrequent. It is tentative to believe that each of these pathogenic mutations would have its own deleterious effect. Here we reported one three-g

We would like to thank our patients for participating in this study and Javier Cabrera-Perez for help in editing the language. We are grateful to the members in Yao's laboratory for helpful discussion. This study was supported by grants from the Chinese A