An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome

被引：11
|
作者：
Müller, JS
Stucka, R
Neudecker, S
Zierz, S
Schmidt, C
Huebner, A
Lochmüller, H
Abicht, A
机构：
[1] Univ Munich, Mol Myol Lab, Dept Neurol, Friedrich Baur Inst, D-81377 Munich, Germany
[2] Univ Halle Wittenberg, Dept Neurol, Dresden, Germany
[3] Tech Univ Dresden, Dept Pediat, D-8027 Dresden, Germany
来源：
NEUROLOGY | 2005年 / 65卷 / 03期
关键词：
D O I：
10.1212/01.wnl.0000172346.26219.fd
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Reported is a patient with a congenital myasthenic syndrome due to two compound heterozygous mutations of the CHRNE gene. The molecular consequences of a novel intronic base alteration ( CHRNE IVS5-16G -> A) remote from the splice acceptor site were investigated in vivo and in vitro. In conclusion, RNA analysis may be necessary to reveal unexpected splicing aberrations due to intronic mutations that are not part of the consensus splice site.
引用
收藏
页码：463 / 465
页数：3
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