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Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene 期刊论文

编号：

2e74ac1a-17de-478f-a7bf-c9d996234a9e
作者：

Liu, ZJ^[1,2,3,4,5];Sun, YM(孙一忞)^[1,2,3]Ni, W.^[1,2,3,4,5];Dong, Y.^[1,2,3];Shi, SS^[1,2,3];Wu, ZY^[1,2,3];
语种：

English
期刊：

CLINICAL GENETICS ISSN：0009-9163 2014 年 85 卷 2 期 (189 - 193) ; FEB
收录：
关键词：

CAG repeats beyond 60 Huntington's disease HTT
摘要：

Patients with Huntington's disease (HD) carrying CAG repeats beyond 60 are less frequently seen and clinical features of them have been rarely reported. We identified four unrelated patients carrying CAG repeats beyond 60 (84.0 +/- 13.76, ranging from 74 to 104) from 119 Chinese HD patients via direct sequencing. These four were all early onset with a mean age at presenting symptom of 9.8 +/- 1.71years. Paternal transmission was found in three of them and the fourth was apparently sporadic. In addition, they had atypical onset symptoms including epilepsy, intellectual decline, tics and walking instability, which might lead the clinicians to make the wrong diagnosis in the early stage of disease. Our work explores clinical features of Chinese HD patients with an expanded CAG repeat over 60 and may help the clinicians make a correct diagnosis in the early stage of disease.
推荐引用方式
GB/T 7714：

Liu Z-J,Sun Y-M,Ni W., et al. Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene [J].CLINICAL GENETICS,2014,85(2):189-193.
APA：

Liu Z-J,Sun Y-M,Ni W.,Dong Y.,&Wu Z-Y.(2014).Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene .CLINICAL GENETICS,85(2):189-193.
MLA：

Liu Z-J, et al. "Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene" .CLINICAL GENETICS 85,2(2014):189-193.

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