SMN1 and proximal spinal muscular atrophy: In a mouse model of SMA, application of antisense oligonucleotide (ASO) therapy aimed at increasing the expression of exon 7-containing SMN from the SMN2 locus have a major impact on disease (Hua et al., 2011), and human trials using this approach are promising (Finkel et al., 2016; Mercuri et al., 2018).