シャルコー・マリー・トゥース病
Channelopathy mutations in the "TRPV4" gene lead to skeletal dysplasias, premature osteoarthritis, and neurological motor function disorders and are associated with a range of disorders, including brachyolmia type 3, congenital distal spinal muscular atrophy, scapuloperoneal spinal muscular atrophy, and subtype 2C of Charcot–Marie–Tooth disease.