3例肌阵挛性肌张力障碍的临床及遗传学特征：视频展示

Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation.

作者信息

Kock Norman, Kasten Meike, Schüle Birgitt, Hedrich Katja, Wiegers Karin, Kabakci Kemal, Hagenah Johann, Pramstaller Peter P, Nitschke Matthias F, Münchau Alexander, Sperner Jürgen, Klein Christine

机构信息

Department of Neurology, University of Schleswig-Holstein, Lübeck, Germany.

出版信息

Mov Disord. 2004 Feb;19(2):231-4. doi: 10.1002/mds.10635.

DOI:10.1002/mds.10635

PMID:14978685

Abstract

Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.

摘要

许多肌阵挛性肌张力障碍（M-D）病例是由ε-肌聚糖（SGCE）基因突变引起的。我们描述了3名临床表现类似常染色体显性M-D的儿童，其中只有1名存在SGCE突变，这表明M-D在遗传上具有异质性。