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GENATLAS PHENOTYPE

last update : 17-07-2017

Symbol	CMT2Y
Location	22q12.2
Name	Charcot-Marie-Tooth disease, type 2Y
Corresponding gene	VCP
Main clinical features	peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss; most patients have involvement of both the lower and upper limbs age at onset and the severity of the disorder are highly variable electrophysiologic studies were consistent with an axonal sensorimotor neuropathy with variably decreased amplitudes and prolonged latencies
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

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