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References OMIM Gene GeneReviews HGMD HGNC
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