Dejerine-Sottas neuropathy and PMP22 point mutations: A new base pair substitution and a possible "hot spot" on Ser72

被引：36

作者：

Marques, W

Thomas, PK

Sweeney, MG

Carr, L

Wood, NW

机构：

[1] Inst Neurol, Dept Clin Neurol, London WC1N 3BG, England

[2] Royal Free Hosp, Sch Med, Dept Clin Neurosci, London, England

[3] Inst Child Hlth, London, England

[4] Univ Sao Paulo, Dept Neurol Psychiat & Med Psychol, Ribeirao Preto, Brazil

来源：

ANNALS OF NEUROLOGY | 1998年 / 43卷 / 05期

关键词：

D O I：

10.1002/ana.410430521

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The occurrence of mutations in peripheral myelin protein 22 is one of the genetic mechanisms associated with Dejerine-Sottas neuropathy (DSN). On direct sequencing 2 of such patients we have found the first mutation in the third transmembrane domain associated with this neuropathy and the fourth Ser72Leu. We propose that the Ser72 may be a "hot spot" for DSN and that this should be considered for molecular analysis.

引用

页码：680 / 683

页数：4

共 18 条

[1]

ADLOKOFER K, 1995, NAT GENET, V11, P274

[2]

[Anonymous], 1993, Human gene mutation

[3]

Dyck PJ, 1994, PERIPHERAL NEUROPATH, P1094

[4] DEJERINE-SOTTAS DISEASE WITH DE-NOVO DOMINANT POINT MUTATION OF THE PMP22 GENE [J].