In humans, heterozygous mutations in DYNC1H1 have been associated with neuromuscular and neurodevelopmental disorders such as spinal muscular atrophy with lower limb dominance (OMIM 158,600) [57], Charcot-Marie-Tooth disease axonal type 2O (OMIM 614,228) [58] and cortical dysplasia with other brain malformations (OMIM 614,563) [59]. Here, DYNC1H1 is linked to proximal spinal muscular atrophy.