title: Nerve conduction studies in Charcot-Marie-Tooth disease in a cohort from Turkey.
abstract: BACKGROUND
  In the demyelinating form of Charcot-Marie-Tooth disease, median motor conduction velocity (MCV) was noted to be around 20 m/s in peripheral myelin protein 22 (PMP22) duplications, in contrast to higher MCVs in connexin 32 gene (Cx32) mutations and lower MCVs in the demyelinating form of myelin protein zero gene (MPZ) mutations.
  
  
  METHODS
  Nerve conduction studies were performed in 64 families with both common and rare mutations.
  
  
  RESULTS
  Mean MCV of the median nerve was 20 ± 5 m/s in PMP22 duplications, 34 ± 6 m/s in Cx32 mutations, 20 ± 9 m/s in KIAA1985 (SH3TC2) mutations, and 11 ± 8 m/s in MPZ mutations. Conduction was generally uniform; however, conduction blocks were present in 1 patient each with the MPZ mutation and PMP22 duplication, both with unusual phenotypes.
  
  
  CONCLUSIONS
  Our results confirm those of the other investigators. Electrophysiological results of the rare KIAA1985 (SH3TC2) mutation reveal that their MCVs span a broad range and that conduction is uniform.
authors.affiliation: Department of Neurology, Istanbul Medical Faculty, Istanbul University, Capa 34390, Istanbul, Turkey. deymeer@istanbul.edu.tr
authors.forename: Feza
authors.initials: F
authors.lastname: Deymeer
authors.forename: Zeliha
authors.initials: Z
authors.lastname: Matur
authors.forename: Muruvvet
authors.initials: M
authors.lastname: Poyraz
authors.forename: Esra
authors.initials: E
authors.lastname: Battaloglu
authors.forename: Piraye
authors.initials: P
authors.lastname: Oflazer-Serdaroglu
authors.forename: Yesim
authors.initials: Y
authors.lastname: Parman
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D015331:Cohort Studies; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009431:Neural Conduction / Q000502:physiology*; D014421:Turkey / Q000453:epidemiology; D055815:Young Adult