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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-04-2010
Symbol CMT2C
Location 12q24.11
Name Charcot-Marie-Tooth disease, axonal, type 2C
Other name(s) hereditary motor and sensory neuropathy, type IIc
Corresponding gene TRPV4
Other symbol(s) HMSN2C
Main clinical features
  • a variable degree of muscle weakness of limbs, vocal cords, and intercostal muscles and asymptomatic sensory loss, beginning in infancy or childhood
  • axonal neuropathy, vocal cord paresis, and short stature
  • congenital distal spinal muscular atrophies, and scapuloperoneal spinal muscular atrophies
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
  • mutations in TRPV4 altering calcium homeostasis leading to peripheral neuropathies, implying a pathogenic mechanism and possible options for therapy for these disorders (PMID: 20037587))
  • missenses substitutions in the N-terminal ankyrin domain affect channel maturation, leading to reduced surface expression of functional TRPV4 channels (PMID: 20037588))