TRPV4 and Charcot-Marie-Tooth disease axonal type 2C: Auer-Grumbach and collaborators [191] found that mutations in the ARDs (R269H (also studied by [76]), R315W, R316C [192]) of TRPV4 were present in 10 individuals from one family that displayed mild to severe congenital distal SMA; SPSMA or HMSN2C (or Charcot-Marie-Tooth disease type 2C) phenotypes.