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GENATLAS PHENOTYPE

last update : 04-12-2014

Symbol	CMT2S
Location	11q13.3
Name	Charcot-Marie Tooth disease type 2 S
Corresponding gene	IGHMBP2
Main clinical features	slowly progressive weakness, wasting and sensory loss, with an axonal neuropathy axonal form, with a normal or slightly reduced nerve conduction velocity
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)