ASCC1 and proximal spinal muscular atrophy: Knierim et al. (2016) identified a homozygous frameshift variant (c.157dupG, p.Glu53Glyfs*19) in ASCC1 in a patient with prenatal‐onset spinal muscular atrophy (SMA), multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, and congenital bone fractures.