REEP1 and distal hereditary motor neuropathy: [8] Surprisingly, however, the REEP1 splice site variant c.304‐2A>C, which leads to the deletion of REEP1 exon 5 (Δexon5), is associated with distal hereditary motor neuropathy (dHMN), which is characterized by slowly progressive distal‐limb‐muscle weakness and wasting without spasticity.[9]