SLC25A46 and Leber hereditary optic neuropathy: SLC25A46 gene mutations have been identified in patients with Leigh syndrome [102], autosomal recessive cerebellar ataxia [103], progressive myoclonic ataxia with optic atrophy [104], Charcot-Marie Tooth syndrome 2 [105], and lethal pontocerebellar hypoplasia [106] (Fig. 1).