title: [Studies of electromyography and genetics in children with Charcot-Marie-Tooth disease type 1].
abstract: OBJECTIVE
  To study the electromyographic and genetic characteristics in children with Charcot-Marie-Tooth disease type 1 (CMT1).
  
  
  METHODS
  Routine electromyography and nerve conduction were performed in 24 children with CMT1. Polymerase chain reaction (PCR) combined with restriction enzyme digestion was used to detect gene duplication on chromosome 17p11.2-12. Ten healthy children served as the control group.
  
  
  RESULTS
  The peripheral nerve conduction velocity slowed or disappeared in all of the 24 patients (100%). The lesions of the sensory nerves were more severe than the motor nerves, and the lesions of the lower limbs were more severe than the upper limbs. Of 72 muscles detected, 40 (56%) showed neurogenic lesions. The older the patients, the more severe the muscle lesions. Specific junction fragments (1760 bp) were identified in 13 (54%) out of 24 patients, but were not identified in the healthy controls.
  
  
  CONCLUSIONS
  The electromyographic changes are characterized by peripheral nerve conduction velocities slowing and neurogenic lesions of muscles in children with CMT1. The PCR combined with restriction enzyme digestion may be a simple and accurate method for gene diagnosis of CMT1.
authors.affiliation: Laboratory of Neuroelectrophysiology, China Medical University, Shenyang, China. panxl@sj_hospital.org
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Pan
authors.forename: Nan-Nan
authors.initials: NN
authors.lastname: Zhang
authors.forename: Hong-Lian
authors.initials: HL
authors.lastname: Ye
authors.forename: Yue-Fei
authors.initials: YF
authors.lastname: Zhao
authors.forename: Hong
authors.initials: H
authors.lastname: Gao
mesh_terms: D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D009431:Neural Conduction