Mutational analyses of GARS in the 54 unrelated patients with CMT2 revealed three heterozygous missense variants, including p.Asp146Tyr (c.598G>T), p.Met238Arg (c.875T>G) (Fig 1A) and p.Asn208Asp (c.784A>G). Here, GARS1 is linked to Charcot-Marie-Tooth disease type 2.