UBA1 and proximal spinal muscular atrophy: Since the discovery of UBA1 as the gene causative of XL-SMA, Dlamini et al. (2013), Jędrzejowska et al. (2015), Shaughnessy et al. (2020), Wang et al. (2020), and Öztürk et al. (2022) reported mutations of UBA1 in patients with XL-SMA [115,116,117,118,119].