In particular, we analysed a set of U12 intron-containing genes, that were shown to be sensitive to SMN deficiency in mammalian SMA cells, including patient cells (Atxn10, Mapk8, Parp1, Vps16, C19orf54, Thoc2, Clcn7, Harsl, Tmem41b)16,17. The gene discussed is HARS2; the disease is proximal spinal muscular atrophy.