SMN2 and proximal spinal muscular atrophy: This splice switching approach has been successfully applied to other neuromuscular diseases for both exon inclusion and exclusion, including nusinersen for spinal muscular atrophy in which ASO induced SMN2 exon 7 inclusion, and eteplirsen for Duchenne muscular dystrophy, where skipping of exons neighboring out-of-frame deletions is capable of restoring the reading frame.34, 35, 36 In this study, we investigated an exon-skipping strategy to exclude the pseudo-exon splicing resulting from the de novo c.930+198C > T heterozygous mutation in the COL6A1 gene (Figure 1A).32