title: [X-linked recessive Charcot-Marie-Tooth disease and Cx32 gene mutation].
abstract: OBJECTIVE
  To study the Cx32 gene mutation in a X-linked recessive Charcot-Marie-Tooth disease (CMTXR) family.
  
  
  METHODS
  Mutation analysis of Cx32 was screened by polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 4 patients, 9 unaffected family members and 50 unrelated normal individuals.
  
  
  RESULTS
  Arg15Gln mutation was found in 4 patients and 3 unaffected family members.
  
  
  CONCLUSIONS
  The mutation of Cx32 can also cause CMTXR. Using PCR-SSCP combined with DNA direct sequencing can make gene diagnosis to CMTXR that is caused by Cx32 mutation.
authors.affiliation: Xiangya Hospital, Central South University, Changsha 410008, China.
authors.forename: W
authors.initials: W
authors.lastname: Luo
authors.forename: B
authors.initials: B
authors.lastname: Tang
authors.forename: J
authors.initials: J
authors.lastname: Xiao
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein