Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

@article{Liehr1996MosaicismFT,
  title={Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion},
  author={T. Liehr and B. Rautenstrauss and H. Grehl and K. D. Bathke and A. Ekici and A. Rauch and H. Rott},
  journal={Human Genetics},
  year={1996},
  volume={98},
  pages={22-28}
}
A female patient with clinical signs and symptoms of a demyelinating neuropathy was shown to have a duplication of the 1.5-Mb region on chromosome 17p11.2, typical of the great majority of cases of Charcot-Marie-Tooth disease type 1A (CMT1A). [...] Key Result However, analysis of DNA extracted from peripheral blood revealed a 2:2.4 instead of the usual 2:3 ratio between the 7.8- and 6.0-kb EcoRI fragments in the proximal and distal repetitive extragenic palindromic (REP) elements of CMT1A.Expand
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