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GENATLAS PHENOTYPE

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

Remark(s)

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))