Moreover, splicing defects could also determine alterations in the microtubule-based motor proteins (kinesin and dynein) and other interacting proteins, justifying the well-known alteration of cellular trafficking in SMA (Dale et al., 2011): notably, dynein can affect the expression and the clustering of agrin-induced AChRs, MuSK and Rapsyn; in addition defects in dynein can lead to impairment of NMJs, and seem to be involved in ALS neurodegeneration (Vilmont et al., 2016). The gene discussed is MUSK; the disease is amyotrophic lateral sclerosis.