GARS1 and Charcot-Marie-Tooth disease type 2D: Missense mutations in GARS were first described in 2003 in association with Charcot-Marie-Tooth disease type 2D (CMT2D: OMIM 601472), and distal Spinal Muscular Atrophy type V (dSMA-V; OMIM 600794) in five families with atrophy and weakness of the hand muscles [5].