Corpus ID: 85741698

Detection oftheCMTlA/HNPPrecombination hotspot inunrelated patients ofEuropean

  title={Detection oftheCMTlA/HNPPrecombination hotspot inunrelated patients ofEuropean},
  author={A. L{\"o}fgren and E. Nelis and C. Vanbroeckhoven and B. Rautenstrauss and T. Liehr and K. D. Bathke and H. Grehl},
Charcot-Marie-Tooth type 1 disease (CMT1)andhereditary neuropathy with liability to pressure palsies (HNPP)are common inherited disorders oftheperipheral nervous system.The majority of CMT1 patients have a 1.5Mb tandem duplication (CMT1A) in chromosome 17pll.2 whilemost HNPP patients havea deletion ofthesame 1.5Mb region. The CMT1A duplication and HNPP deletion are thereciprocal products ofan unequal crossing over eventbetweenmisaligned flanking CMT1A-REP elements. We analysed162unrelated CMT1A… Expand