SLC25A46 and neuromuscular disease: SLC25A46. Various mutations found in the SLC25A46 gene were identified and related to several mitochondrial neurodegenerative and neuromuscular diseases, including inherited optic atrophy, Charcot–Marie–Tooth type 2, Leigh syndrome, progressive myoclonic ataxia, and lethal congenital pontocerebellar hypoplasia.