CMT AND NEUROGENIC DISEASE

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Transient receptor potential vanilloid 4 channel (TRPV4) is a calcium permeable cation channel predominantly expressed in bone and peripheral nervous system (PNS). TRPV4 mutations cause a spectrum of skeletal disorders and PNS syndromes, including Charcot-Marie-Tooth disease type 2C, spinal muscular atrophy, arthrogryposis, and scapuloperoneal spinal muscular atrophy. A 6-year-old boy from a non-consanguineous family was referred to our clinic due to arthrogryposis multiplex congenita (AMC) and weakness of lower limbs.

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