Recently, non‐5q‐SMN1 variants have been reported in SMA patients, including variants in VRK1 (Renbaum et al., 2009), EXOSC3 (Wan et al., 2012), EXOSC8 (Boczonadi et al., 2014), and SLC25A46 (Wan et al., 2016). This evidence concerns the gene SMN1 and proximal spinal muscular atrophy.