Ultrastructural PMP22 expression in inherited demyelinating neuropathies
JM Vallat, P Sindou, PM Preux, F Tabaraud… - Annals of …, 1996 - Wiley Online Library
Annals of neurology, 1996•Wiley Online Library
Abstract 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 reduced expression of …
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 reduced expression of …
Abstract
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 reduced expression of PMP22 level compared with controls.
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