title: Report of a novel mutation in the PMP22 gene causing an axonal neuropathy.
abstract: BACKGROUND
  Point mutations in the peripheral myelin protein 22 (PMP22) gene rarely cause the hereditary neuropathies Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), both of which show a demyelinating phenotype.
  
  
  METHODS
  In this study we characterized a family with an axonal neuropathy.
  
  
  RESULTS
  Three family members carried a heterozygous point mutation of the PMP22 gene, resulting in amino acid substitution R159C. Screening of 185 healthy controls did not reveal the R159C allele in any case.
  
  
  CONCLUSIONS
  The novel R159C mutation represents a very rare case of a dominant PMP22 mutation causing an axonal neuropathy.
authors.affiliation: Department of Neurology, University of Münster, Albert-Schweitzer Strasse 33, Münster 48149, Germany.
authors.forename: Burkhard
authors.initials: B
authors.lastname: Gess
authors.forename: Astrid
authors.initials: A
authors.lastname: Jeibmann
authors.forename: Anja
authors.initials: A
authors.lastname: Schirmacher
authors.forename: Ilka
authors.initials: I
authors.lastname: Kleffner
authors.forename: Matthias
authors.initials: M
authors.lastname: Schilling
authors.forename: Peter
authors.initials: P
authors.lastname: Young
mesh_terms: D000369:Aged, 80 and over; D001369:Axons / Q000473:pathology* / Q000502:physiology*; D002648:Child; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D011115:Polyneuropathies / Q000235:genetics* / Q000503:physiopathology
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human