The association of MORC2 variants with human disease has been noted only recently, and most of the affected individuals have been identified through studies of neuropathies.[1]MORC2 mutations are responsible for axonal motor and sensory neuropathies with a congenital or infantile onset and a presentation similar to that of spinal muscular atrophy. This evidence concerns the gene MORC2 and proximal spinal muscular atrophy.