Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 29-01-2009

Symbol	CMT3A
Location	1q22
Name	hypomyelination neuropathy, congenital
Corresponding gene	MPZ
related resource	Antithrombin Mutation Database
Other symbol(s)	CMT4E
Main clinical features	characterized by onset in infancy of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocity, with joint contractures or arthrogryposis multiplex congenita
Genetic determination	autosomal recessive
	autosomal dominant
Related entries	including CMT4E
Function/system disorder	neurology
Type	disease

Gene product

Name	myelin protein zero (MPZ)

Remark(s)