MeCP2 mutations: progress towards understanding and treating Rett syndrome

被引:0
作者
Ruth R. Shah
Adrian P. Bird
机构
[1] University of Edinburgh,Wellcome Trust Centre for Cell Biology
[2] Max Born Crescent,undefined
来源
Genome Medicine | / 9卷
关键词
Rett Syndrome; MECP2 Gene; MeCP2 Mutation; MeCP2 Function; MeCP2 Deficiency;
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学科分类号
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.
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