Clinical and electrophysiological features in Chinese patients with Kennedy's disease

被引:7
作者
Hui, ACF [1 ]
Cheung, PT
Tang, ASY
Fu, M
Wong, L
Kay, R
机构
[1] Chinese Univ Hong Kong, Prince Wales Hosp, Dept Med & Therapeut, Hong Kong, Hong Kong, Peoples R China
[2] Univ Hong Kong, Queen Mary Hosp, Dept Paediat, Hong Kong, Hong Kong, Peoples R China
关键词
Kennedy's disease; genetics; trinucleotide repeats; electrophysiology;
D O I
10.1016/j.clineuro.2004.02.002
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Kennedy's disease is a X-linked neuromuscular disorder caused by an expanded trinucleotide repeat in the androgen receptor gene. To ascertain the clinical diagnosis of Kennedy's disease in a Chinese population, we used a rapid, accurate PCR-based sizing method for the CAG repeat allelotype. The clinical and electrophysiological features of affected patients are described. The CAG repeats ranged from 43 to 53 and were inversely correlated with the age of onset (r = -0.63; P < 0.005). (C) 2004 Elsevier B.V. All rights reserved.
引用
收藏
页码:309 / 312
页数:4
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