Interestingly, this process is hampered in patients affected by SMA type I. In addition, this observation is also corroborated by evidence demonstrating that ZPR1 is expressed at low levels in patients with severe SMA.127 Furthermore, it has been reported that, mutation of ZPR1 resulted in embryonic lethality in mice. The gene discussed is ZPR1; the disease is spinal muscular atrophy, type 1.