mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population

► mtDNA fragments encompassing the m.3635 region in 1398 Chinese probands with LHON were analyzed by cycle sequencing. ► m.3635G>A mutation was detected in eight of the 1398 probands, where four of the eight had a family history of LHON. ► All patients with the m.3635G>A had the typical phenotype of LHON. ► The m.3635G>A is a pathogenic and common LHON mutation in the Chinese population.