Type 2C Charcot-Marie-Tooth Disease

About the Disease
Hereditary Motor and Sensory Neuropathy, Type Iic, also known as charcot-marie-tooth disease axonal type 2c, is related to spondylometaphyseal dysplasia, kozlowski type and scapuloperoneal spinal muscular atrophy, and has symptoms including stridor and urgency of micturition. An important gene associated with Hereditary Motor and Sensory Neuropathy, Type Iic is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Intracellular trafficking proteins involved in CMT neuropathy and Amyotrophic lateral sclerosis (ALS). Affiliated tissues include skin, bone and peripheral nerve, and related phenotypes are short stature and scoliosis

Common Targets
NEFH

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