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An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating neuropathy. Point mutations in the PMP22 gene are a rare cause of HNPP. A novel PMP22 splice site mutation (c.179+1 G→C) is reported in an HNPP family. By reverse transcriptase-polymerase chain reaction experiments, this mutation was shown to cause the synthesis of an abnormal mRNA in which a premature stop codon probably produces a truncated non-functional protein.

  • CMT1A, Charcot-Marie-Tooth disease type 1A
  • HNPP, hereditary neuropathy with liability to pressure palsies
  • PFGE, pulsed field gel electrophoresis
  • SSCP, single strand conformation polymorphism
  • HNPP
  • splice site mutation
  • PMP22

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