作者
Jean‐Michel Vallat, Philippe Sindou, Pierre‐Marie Preux, Fransois Tabaraud, André‐Michel Milor, Philippe Couratier, Eric Leguern, Alexis Brice
发表日期
1996/6
期刊
Annals of neurology
卷号
39
期号
6
页码范围
813-817
出版商
Wiley Subscription Services, Inc., A Wiley Company
简介
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.
引用总数
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学术搜索中的文章
JM Vallat, P Sindou, PM Preux, F Tabaraud, AM Milor… - Annals of neurology, 1996