More specifically, the GlyRS protein (GARS) encoded by GARS was of particular interest because of its known role in Charcot-Marie-Tooth disease type 2D (CMT2D), a neuromuscular disorder with phenotypic similarity to SMA (Antonellis et al., 2003; Sivakumar et al., 2005; James et al., 2006; Motley et al., 2010). Here, SMN1 is linked to Autosomal dominant Charcot-Marie-Tooth disease type 2D.