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GENATLAS PHENOTYPE

last update : 28/10/06

Symbol	CMT1E
Location	17p11.2
Name	Charcot-Marie-Tooth disease, demyelinating, type 1E
Corresponding gene	PMP22
Main clinical features	onset occurred in childhood with weakness of peroneal muscles, followed by atrophy, pes calcaneovarus, steppage gait, poor balance, and diminished sensation in the legs, pes cavus, hammertoes, and absent deep tendon reflexes, sensorineural hearing loss, which became apparent in the second decade, was severe to profound
Genetic determination	autosomal dominant
Function/system disorder	neurology
	neuromuscular
Type	disease