Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

@article{GabrelsFesten1995CharcotMarieToothDT,
  title={Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations},
  author={Anneke A. W. M. Gabre{\"e}ls-Festen and Pieter A. Bolhuis and Jessica E. Hoogendijk and Linda J. Valentijn and E. J. H. M. Eshuis and Fons J. M. Gabre{\"e}ls},
  journal={Acta Neuropathologica},
  year={1995},
  volume={90},
  pages={645-649}
}
Charcot-Marie-Tooth disease type 1A (CMT1A) or hereditary motor and sensory neuropathy type Ia (HMSN type Ia) is an autosomal dominant demyelinating polyneuropathy, which may result from duplications as large as 1.5 Mb on chromosome 17p11.2–p12 encompassing the gene for the peripheral myelin protein PMP22, or from point mutations in this gene. In general, it is not possible to distinguish, by clinical and neurophysiological criteria, the cases associated with the duplication mutation from those… CONTINUE READING