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GENATLAS PHENOTYPE

last update : 18-02-2013

Symbol	CMT4C
Location	5q32
Name	Charcot-Marie-Tooth disease, type 4C
Other name(s)	Charcot-Marie-Tooth neuropathy, motor and sensory, type 4C
Corresponding gene	SH3TC2
Main clinical features	demyelinating neuropathy with early spine deformities onset in childhood or adolescence, precocious and rapidly progressive scoliosis and pes cavus, a slow progession, decreased nerve conduction velocity, thin myelin sheaths and onion bulb formations at the biopsy, giant axons delayed age of walking, muscular atrophy, areflexia, sensory impairment, foot deformities (pes cavus), and reduced motor and sensory nerve conduction velocities (Arnaud 2009)
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Gene product

Name	SH3 domain and tetratricopeptide repeats 2

Remark(s)