Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

@article{Timmerman1997DetectionOT,
  title={Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.},
  author={V. Timmerman and B. Rautenstrauss and L. Reiter and T. Koeuth and A. L{\"o}fgren and T. Liehr and E. Nelis and K. D. Bathke and P. de Jonghe and H. Grehl and J. Martin and J. Lupski and C. Van Broeckhoven},
  journal={Journal of Medical Genetics},
  year={1997},
  volume={34},
  pages={43 - 49}
}
Charcot-Marie-Tooth type 1 disease (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral nervous system. The majority of CMT1 patients have a 1.5Mb tandem duplication (CMT1A) in chromosome 17p11.2 while most HNPP patients have a deletion of the same 1.5 Mb region. The CMT1A duplication and HNPP deletion are the reciprocal products of an unequal crossing over event between misaligned flanking CMT1A-REP elements. We analysed… Expand
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