SLC25A46 encodes a novel outer mitochondrial membrane protein that is widely expressed in the nervous system (Haitina et al., 2006), and mutated in numerous neurological diseases including optic atrophy spectrum disorder, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic ataxia, and lethal congenital pontocerebellar hypoplasia (Abrams et al., 2015; Wan et al., 2016; Terzenidou et al., 2017) (OMIM 610826). This evidence concerns the gene SLC25A46 and Charcot-Marie-Tooth disease type 2.