title: Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease.
abstract: OBJECTIVE
  To study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease.
  
  
  METHODS
  A CMT2L proband with 423(G--> T) mutation in HSP22 gene had been studied and reported by the present authors. In this study, mutation analysis of HSP22 gene was performed using polymerase chain reaction and DNA direct sequencing in 114 CMT probands.
  
  
  RESULTS
  In the 114 CMT probands, a 582(C--> T)(T194T)samesense mutation was found in two unrelated families.
  
  
  CONCLUSIONS
  The rate of HSP22 gene mutation in Chinese patients with CMT is as low as 0.87%(1/115).
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
authors.forename: Fu-feng
authors.initials: FF
authors.lastname: Zhang
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Guo-hua
authors.initials: GH
authors.lastname: Zhao
authors.forename: Biao
authors.initials: B
authors.lastname: Chen
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhang
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
authors.forename: Xiao-min
authors.initials: XM
authors.lastname: Liu
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Fang
authors.initials: F
authors.lastname: Cai
authors.forename: Zheng-mao
authors.initials: ZM
authors.lastname: Hu
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Ru-xu
authors.initials: RX
authors.lastname: Zhang
authors.forename: Peng
authors.initials: P
authors.lastname: Guo
mesh_terms: D044466:Asian People / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000208:ethnology / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D050888:Heat-Shock Proteins, Small / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D050888:Heat-Shock Proteins, Small