MeCP2 mutations: progress towards understanding and treating Rett syndrome

被引：54
|
作者：
Shah, Ruth R. [1 ]
Bird, Adrian P. [1 ]
机构：
[1] Univ Edinburgh, Wellcome Trust Ctr Cell Biol, Max Born Crescent, Edinburgh EH16 5DS, Midlothian, Scotland
来源：
GENOME MEDICINE | 2017年 / 9卷
基金：
英国惠康基金;
关键词：
SEVERITY;
D O I：
10.1186/s13073-017-0411-7
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain.
引用
收藏
页数：4
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