We have previously reported 6 patients with nonprogressive neuropathy and fatigable weakness carrying c.923C>T; p.(Pro308Leu) in SYT2 (family 4) (figure 1G),14 5 patients with distal congenital nonprogessive SMA carrying c.320C>T, p.(Ser107Leu) in BICD2 (families 5–6) (figure 1H),15 and 2 patients with TRPV4 mutations associated with childhood-onset scapuloperoneal SMA and metatropic dysplasia (family 10) (figure 1C) or adult-onset dHMN (family 11).16 Here, SYT2 is linked to proximal spinal muscular atrophy.