Mitochondrial m.13513G>A point mutation in ND5 in a 16-year-old man with Leber hereditary optic neuropathy detected by next-generation sequencing.

Vázquez-Justes D, Carreño-Gago L, García-Arumi E, Traveset A, Montoya J, Ruiz-Pesini E, López R, Brieva L. Journal of Pediatric Genetics 019; In press.