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[Clinical features of patients with Becker muscular dystrophy and deletions of the rod domain of dystrophin gene].

摘要:

OBJECTIVE To explore the clinical features of patients carrying deletions of the rod domain of the dystrophin gene. METHODS Clinical data of 12 Chinese patients with Becker muscular dystrophy (BMD) and such deletions was reviewed. RESULTS Most patients complained of muscle weakness of lower limbs. Two patients had muscle cramps, one had increased creatine kinase (CK) level, and one had dilated cardiomyopathy. CONCLUSION Compared with DMD, the clinical features of BMD are much more variable, particularly for those carrying deletions of the rod domain of the dystrophin gene. Muscular weakness may not be the sole complaint of BMD. The diagnosis of BMD cannot be excluded by moderately elevated CK. For male patients with dilated cardiomyopathy, the possibility of BMD should be considered.

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作者单位: Department of Internal Medicine, the Affiliated Hospital of Southern China University of Technology, Guangzhou, Guangdong 510640, China; Department of Neurology, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China. Email: zhangch6@mail.sysu.edu.cn. [1]
期刊:
《Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics》 2018年35卷1期14-17页
DOI: 10.3760/cma.j.issn.1003-9406.2018.01.003
发布时间: 2018-06-05
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