ARS mutations were first formally associated with human disease in 2003, with identification of dominant mutations in GARS1 as the cause of Charcot-Marie-Tooth disease type 2D (CMT2D) and spinal muscular atrophy type V (SMAV; Antonellis et al., 2003). This evidence concerns the gene GARS1 and Autosomal dominant Charcot-Marie-Tooth disease type 2D.