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GENATLAS PHENOTYPE

last update : 03-03-2010

Symbol	CMT2N
Location	16q21
Name	Charcot-Marie-Tooth disease, axonal, type 2N
Corresponding gene	AARS
Main clinical features	axonal form of Charcot-Marie-Tooth disease with a mean age at onset of 28 years mild to moderate motor disability of the lower right limb and occasional motor disability of the right hand, bilateral distal motor weakness in the lower limbs without amyotrophy or foot deformities, and weak reflexes at EMG, motor and sensory axonal neuropathy with a mean motor nerve conduction velocity of 41 m/s
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)