title: A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype.
abstract: BACKGROUND
  In this study we examined a family with electrophysiological findings of hereditary neuropathy with liability to pressure palsies (HNPP) and a mild clinical presentation.
  
  
  METHODS
  Four members of a family were referred for diagnosis of HNPP. Electrophysiological studies included motor and sensory nerve conduction studies in the upper and lower extremities. Investigations of microsatellites, using polymorphic repeat markers flanking the gene, and multiplex ligation-dependent probe amplification (MLPA) were performed for molecular studies.
  
  
  RESULTS
  The initial study of microsatellites did not detect any change, but MLPA demonstrated a small deletion of exon 5 in the PMP22 gene.
  
  
  CONCLUSIONS
  Our findings demonstrate the important role of small deletions in the PMP22 gene in the etiology of HNPP with a normal microsatellite study.
authors.affiliation: Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, c/ Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain. carloscasasnovas@bellvitgehospital.cat
authors.forename: Carlos
authors.initials: C
authors.lastname: Casasnovas
authors.forename: Isabel
authors.initials: I
authors.lastname: Banchs
authors.forename: Laura
authors.initials: L
authors.lastname: De Jorge
authors.forename: Maria
authors.initials: M
authors.lastname: Antónia Albertí
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Martínez-Campo
authors.forename: Mónica
authors.initials: M
authors.lastname: Povedano
authors.forename: Jordi
authors.initials: J
authors.lastname: Montero
authors.forename: Victor
authors.initials: V
authors.lastname: Volpini
mesh_terms: D000328:Adult; D002886:Chromosomes, Human, Pair 17; D006801:Humans; D008297:Male; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics; D010243:Paralysis / Q000150:complications / Q000235:genetics*; D011115:Polyneuropathies / Q000150:complications / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human