MORC2 and proximal spinal muscular atrophy: This study allowed the identification of several new MORC2 mutations such as p.T24I, p.Q27K, p.A88V, p.R256C, p.S388R, p.V413F, and also identified new patients carrying the already known mutations p.S87L and p.Y394C initially described as causing SMA-like features.