A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.

作者信息

Hartmann Christian Johannes, Leube Barbara, Wojtecki Lars, Betz Beate, Groiss Stefan Jun, Bauer Peter, Schnitzler Alfons, Südmeyer Martin

出版信息

J Neurol. 2011 Jun;258(6):1186-8. doi: 10.1007/s00415-011-5911-6. Epub 2011 Jan 26.

DOI:10.1007/s00415-011-5911-6

PMID:21267590

Abstract

摘要

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A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.

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引用本文的文献

Myoclonus-dystonia syndrome: case report.肌阵挛性肌张力障碍综合征：病例报告

North Clin Istanb. 2015 Jan 24;1(3):187-190. doi: 10.14744/nci.2014.28247. eCollection 2014.

本文引用的文献

Myoclonus-dystonia: an update.肌阵挛性肌张力障碍：最新进展

Mov Disord. 2009 Mar 15;24(4):479-89. doi: 10.1002/mds.22425.

Myoclonus-dystonia due to maternal uniparental disomy.由于母源性单亲二体导致的肌阵挛性肌张力障碍

Arch Neurol. 2008 Oct;65(10):1380-5. doi: 10.1001/archneur.65.10.1380.

Myoclonus-dystonia: significance of large SGCE deletions.肌阵挛性肌张力障碍：大型SGCE基因缺失的意义

Hum Mutat. 2008 Feb;29(2):331-2. doi: 10.1002/humu.9521.

SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.导致肌阵挛性肌张力障碍综合征的SGCE错义突变损害ε-肌聚糖向质膜的转运：泛素化和扭转蛋白A的调节作用

Hum Mol Genet. 2007 Feb 1;16(3):327-42. doi: 10.1093/hmg/ddl472. Epub 2007 Jan 2.

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.在肌阵挛性肌张力障碍综合征中发生突变的ε-肌聚糖基因（SGCE）是母系印记的。

Eur J Hum Genet. 2003 Feb;11(2):138-44. doi: 10.1038/sj.ejhg.5200938.

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.破坏γ-肌聚糖羧基末端的突变会导致肌肉萎缩症。

Hum Mol Genet. 1996 Nov;5(11):1841-7. doi: 10.1093/hmg/5.11.1841.

Essential myoclonus and myoclonic dystonia.原发性肌阵挛和肌阵挛性肌张力障碍。

Mov Disord. 1996 Mar;11(2):119-24. doi: 10.1002/mds.870110202.

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