Ultrastructural PMP22 expression in inherited demyelinating neuropathies

被引：114

作者：

Vallat, JM

Sindou, P

Preux, PM

Tabaraud, F

Milor, AM

Couratier, P

LeGuern, E

Brice, A

机构：

[1] INSERM,U289,PARIS,FRANCE

[2] GRP HOSP PITIE SALPETRIERE,F-75634 PARIS,FRANCE

来源：

ANNALS OF NEUROLOGY | 1996年 / 39卷 / 06期

关键词：

D O I：

10.1002/ana.410390621

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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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页码：813 / 817

页数：5

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