DYNC1H1 and proximal spinal muscular atrophy: Although human DYNC1H1 mutations have been described causing CMT2 neuropathy (DYNC1H1H306R) [24], SMA (DYNC1H1H306R) [25], (DYNC1H1I584L,K671E,Y970C) [26], and severe cognitive/neuronal migration deficits (DYNC1H1E1518K,H3822P) [20,21], to date some of the most interesting results for dissecting disease mechanisms come from the mouse mutants.