Furthermore, recent studies have demonstrated that CARM1 is abnormally upregulated in SMA, leading to the misregulation of a number of transcriptional, alternative splicing, and nonsense-mediated mRNA decay events, which very likely contributes to the SMA pathology (Sanchez et al., 2013, 2016). This evidence concerns the gene CARM1 and proximal spinal muscular atrophy.