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GENATLAS PHENOTYPE

last update : 12-01-2013

Symbol	CMT2Q
Location	10p14
Name	Charcot-Marie-Tooth disease, axonal, type 2Q
Corresponding gene	DHTKD1
Main clinical features	symmetrical muscle wasting and a predominating weakness of the distal parts of the lower limbs, decreased or absent deep-tendon reflexes, and mild to moderate deep sensory impairment
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)