Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in d

We thank patients for participating in this study and Ms. Loretta Pfannes for her help in editing the language. This study was supported by grants from National Science Fund for Distinguished Young Scholars (30725044 to QZ), National Science Foundation of