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GENATLAS PHENOTYPE

last update : 24-05-2017

Symbol	CMT2G
Location	10q22
Name	Charcot-Marie-Tooth disease, axonal, type 2G
Other name(s)	Charcot-Marie-Tooth neuropathy, type 2G
Corresponding gene	SGPL1
Other symbol(s)	CMT2L
Main clinical features	atypical form of axonal peripheral neuropathy, characterized by acute or subacute onset and episodes of recurrent mononeuropathy
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

. plasma levels of sphingosine 1-phosphate and sphingosine/sphinganine ratio were increased in the patients (PMID: 28077491))