TRPV4 and Charcot-Marie-Tooth disease axonal type 2C: Studies have implicated that TRPV4 gene mutation has been connected to three apparent axonal neuropathies, including Scapuloperoneal spinal muscle atrophy (SPS MA), Congenital distal spinal muscle atrophy (CDSMA), and Charcot Marie Tooth disease type 2C (CMT2C).