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GENATLAS PHENOTYPE

last update : 17-12-2011

Symbol	CMT4B1
Location	11q21
Name	Charcot-Marie-Tooth disease, type 4B1
Other name(s)	Charcot-Marie-Tooth neuropathy type 4B1
Corresponding gene	MTMR2
Other symbol(s)	CMT4B
Main clinical features	demyelinating, recessive, with early onset, severe progressive evolution, decreased nerve conduction velocity and focally folded myelin sheaths excessive redundant myelin, also known as myelin outfoldings (PMID: 19587293))
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Gene product

Name	myotubularin related protein 2 (MTMR2)

Remark(s)

loss of MTMR2 in patients, by decreasing Schwann cells proliferation and survival, may impair the first stages of myelination of the peripheral nervous system (Chojnowski 2007)