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GENATLAS PHENOTYPE

last update : 29-01-2009

Symbol	CMT4E
Location	10q21.2
Name	hypomyelinating neuropathy, congenital
Other name(s)	Charcot-Marie-Tooth disease, type 4 E
Corresponding gene	EGR2
Main clinical features	characterized clinically by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities nerve biopsies show hypomyelination of most or all fibers
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	early growth response 2

Remark(s)