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GENATLAS PHENOTYPE

last update : 24-12-2013

Symbol	CMT2P
Location	9q33.3
Name	Charcot-Marie-Tooth disease, axonal, type 2P
Corresponding gene	LRSAM1
Other symbol(s)	HMSNO, HMSNP
Main clinical features	bilateral pes cavus with marked wasting of distal lower extremity muscles and mild wasting of hand intrinsic muscles with fasciculations in upper and lower extremity muscles weakness and wasting were moderate and predominantly in distal lower extremity muscles; onset was usually in the early adult years
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)