Gene dosage effects in hereditary peripheral neuropathy

@article{Gabriel1997GeneDE,
  title={Gene dosage effects in hereditary peripheral neuropathy},
  author={J. Gabriel and B. Erne and D. Pareyson and A. Sghirlanzoni and F. Taroni and A. Steck},
  journal={Neurology},
  year={1997},
  volume={49},
  pages={1635 - 1640}
}
  • J. Gabriel, B. Erne, +3 authors A. Steck
  • Published 1997
  • Medicine
  • Neurology
  • A duplication of a 1.5-Megabase genomic region encompassing the gene for the peripheral myelin protein 22 (PMP22) is found on chromosome 17p11.2-12 in Charcot-Marie-Tooth disease type 1A (CMT1A), whereas the reciprocal deletion is associated with hereditary neuropathy with liability to pressure palsies(HNPP). Since most CMT1A patients harbor three copies of the PMP22 gene, and most HNPP patients carry only a single copy, a gene dosage effect has been proposed as a mechanism for both diseases… CONTINUE READING
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