Ultrastructural PMP22 expression in inherited demyelinating neuropathies.

  title={Ultrastructural PMP22 expression in inherited demyelinating neuropathies.},
  author={Jean-michel Vallat and Philippe Sindou and P. M. Preux and François Tabaraud and A M Milor and Philippe P Couratier and Eric Leguern and Alexis Brice},
  journal={Annals of neurology},
  volume={39 6},
Charcot-Marie-Tooth type 1A (CMT-1A) disease results from a duplication of the PMP22 gene on chromosome 17p11.2. A deletion of the same region causes hereditary neuropathy with liability to pressure palsies (HNPP). We examined the expression of PMP22 in sural nerve biopsies from 2 unrelated patients with CMT-1A, 2 unrelated patients with HNPP, and control patients. The ultrastructural immunocytochemical quantitative analysis of cases of CMT-1A and HNPP showed, respectively, an elevated and… CONTINUE READING


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