title: Ultrastructural PMP22 expression in inherited demyelinating neuropathies.
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.
authors.forename: J M
authors.initials: JM
authors.lastname: Vallat
authors.forename: P
authors.initials: P
authors.lastname: Sindou
authors.forename: P M
authors.initials: PM
authors.lastname: Preux
authors.forename: F
authors.initials: F
authors.lastname: Tabaraud
authors.forename: A M
authors.initials: AM
authors.lastname: Milor
authors.forename: P
authors.initials: P
authors.lastname: Couratier
authors.forename: E
authors.initials: E
authors.lastname: LeGuern
authors.forename: A
authors.initials: A
authors.lastname: Brice
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D046508:Culture Techniques; D015870:Gene Expression; D006801:Humans; D007150:Immunohistochemistry; D005810:Multigene Family / Q000235:genetics; D009431:Neural Conduction / Q000235:genetics; D013497:Sural Nerve / Q000503:physiopathology* / Q000648:ultrastructure*