A novel mutation in the ε-sarcoglycan gene causing myoclonus-dystonia syndrome

被引：20
|
作者：
Hjermind, LE
Werdelin, LM
Eiberg, H
Krag-Olsen, B
Dupont, E
Sorensen, SA
机构：
[1] Univ Copenhagen, Panum Inst, Dept Med Genet, DK-2200 Copenhagen N, Denmark
[2] Copenhagen Univ Hosp, Dept Neurol, Bispebjerg Hosp, Copenhagen, Denmark
[3] Aarhus Univ Hosp, Dept Pediat, Skejby Hosp, Aarhus, Denmark
[4] Aarhus Univ Hosp, Dept Neurol, Aarhus Kommunehosp, Aarhus, Denmark
来源：
NEUROLOGY | 2003年 / 60卷 / 09期
关键词：
D O I：
10.1212/01.WNL.0000061480.86610.BF
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Two families were referred with different clinical diagnoses of dystonia. Twenty-four family members were examined clinically, and mutation analyses were performed. Most of the affected individuals had laryngeal myoclonus and more severe dystonia of the legs than usually reported in myoclonus-dystonia syndrome. Sequence analyses revealed a previously unreported deletion (974delC or R325X) in exon 7 in the epsilon-sarcoglycan gene in members of both families. The two families were found to be related.
引用
收藏
页码：1536 / 1539
页数：4
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