期刊
PARKINSONISM & RELATED DISORDERS
卷 10, 期 7, 页码 421-423出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2004.05.004
关键词
primary dystonia; DYT1 mutation
One hundred sixty-two patients with Korean primary dystonia patients were screened for DYT1 mutation. Five patients were positive for DYT1 mutation. Generalized dystonia patients have higher rate of DYT1 mutation (3/7). Their onset age is young (7-20; mean 13.4). Two patients were found to have segmental dystonia. Like Japanese patients with DYT1 mutation, axial muscle involvement is notable. (C) 2004 Elsevier Ltd. All rights reserved.
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