一个隐性惊吓症家系中的新型GLRA1突变。
A novel GLRA1 mutation in a recessive hyperekplexia pedigree.
作者信息
Forsyth Rob J, Gika Artemis D, Ginjaar Ieke, Tijssen Marina A J
机构信息
Sir James Spence Institute, Royal Victoria Infirmary, Newcastle University, Newcastle upon Tyne NE1 4LP, and Paediatric Neurology Department, St George's Hospital, London, United Kingdom.
出版信息
Mov Disord. 2007 Aug 15;22(11):1643-5. doi: 10.1002/mds.21574.
PMID:17534957
Abstract
We report the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.
摘要
我们报告了在甘氨酸受体GLRA1亚基的M1跨膜结构域内鉴定出一种新型Y228C突变，该突变导致一个库尔德家系出现严重的隐性惊跳症表型。
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