title: [Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].
abstract: OBJECTIVE
  To investigate chloride channel 1 (CLCN1) gene mutation and clinical features of 2 Chinese patients with myotonia congenita.
  
  
  METHODS
  Clinical data of a patient from a family affected with myotonia congenita in addition with a sporadic patient from Fujian province were analyzed. Exons of CLCN1 gene were amplified and sequenced.
  
  
  RESULTS
  The proband from the affected family was found to carry a c.1024G>A heterozygous missense mutation in exon 8, whilst the sporadic patient has carried a c.1292C>T heterozygous missense mutation in exon 11.
  
  
  CONCLUSIONS
  Detection of CLCN1 gene mutation is an effective method for the diagnosis of myotonia congenita. Exon 8 of CLCN1 gene may be a mutational hotspot in Chinese patients with myotonia congenita.
authors.affiliation: Department of Neurology, Union Hospital, Fujian Medical University, Fuzhou, Fujian 350001, PR China.
authors.forename: Zhi-ting
authors.initials: ZT
authors.lastname: Chen
authors.forename: Jin
authors.initials: J
authors.lastname: He
authors.forename: Wan-jin
authors.initials: WJ
authors.lastname: Chen
authors.forename: Sheng-gen
authors.initials: SG
authors.lastname: Chen
authors.forename: Ji-lan
authors.initials: JL
authors.lastname: Lin
authors.forename: Qin-yong
authors.initials: QY
authors.lastname: Ye
authors.forename: Hua-pin
authors.initials: HP
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics*; D005091:Exons; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D009224:Myotonia Congenita / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree
chemical_list: C086321:CLC-1 channel; D018118:Chloride Channels