A TRPV4 mutation with a trafficking defect has also been observed in hereditary motor and sensory neuropathy type IIC (OMIM 606071), also known as Charcot-Marie-Tooth disease type 2C, a neuromuscular disorder mainly characterized by progressive peripheral neuropathy, as well as in congenital distal spinal muscular atrophy (OMIM 600175) and scapuloperoneal spinal muscular atrophy (OMIM 606071).540. The gene discussed is TRPV4; the disease is Charcot-Marie-Tooth disease axonal type 2C.