Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.

@article{Slater2004ImprovedTF,
  title={Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.},
  author={Howard Robert Slater and Damien L. Bruno and Hua Dong Ren and Phung La and Trent Burgess and Louise Hills and Sara Nouri and Jan Schouten and K. H. Andy Choo},
  journal={Human mutation},
  year={2004},
  volume={24 2},
  pages={
          164-71
        }
}
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are the two most common peripheral neuropathies, with incidences of about 1 in 2,500. Several techniques can be used to detect the typical 1.5-Mb duplication or deletion associated with these respective conditions, but none combines simplicity with high sensitivity. MLPA is a new technique for measuring sequence dosage. We have assessed its performance for the detection of the… CONTINUE READING

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Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies

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