title: A novel mutation of gap junction protein β 1 gene in X-linked Charcot-Marie-Tooth disease.
abstract: BACKGROUND
  In this study we report a novel mutation in the gap junction protein beta 1 (GJB1) gene of a Chinese X-linked Charcot-Marie-Tooth disease (CMTX1) family, which has specific electrophysiological characteristics.
  
  
  METHODS
  Twenty members in the family were studied by clinical neurological examination and GJB1 gene mutation analysis, and 3 patients were studied electrophysiologically. The proband and his mother also underwent sural nerve biopsy.
  
  
  RESULTS
  All patients have the CMT phenotype, except for 2 asymptomatic carriers. Electrophysiological examinations showed non-uniform slowing of motor conduction velocities and partial motor conduction blocks and temporal dispersion. Sural nerve biopsy confirmed a predominantly demyelinating neuropathy, and an Asn2Lys mutation in the amino-terminal domain was found in 9 members of this family, but not in 25 normal controls in the family.
  
  
  CONCLUSIONS
  This family represents a novel mutation in the GJB1 form of CMTX1. The mutation in the amino-terminus has an impact on the electrophysiological characteristics of the disease.
authors: Department of Neurology, Changhai Hospital and Second Military Medical University, Shanghai 200433, China.
authors: Sheng Dong
authors: SD
authors: Chen
authors: Zheng Xi
authors: ZX
authors: Li
authors: Yang Tai
authors: YT
authors: Guan
authors: Xia Jun
authors: XJ
authors: Zhou
authors: Jian Ming
authors: JM
authors: Jiang
authors: Yong
authors: Y
authors: Hao