Clinical features of patients with Becker muscular dystrophy and deletions of the rod domain of dystrophin geneCSCD |
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| Institution: | 1.Department of Internal Medicine, Affiliated Hospital of Southern China University of Technology, Guangzhou, Guangdong510640;2.Department of Neurology, Zhujiang Hospital of Southern Medical University, Guangzhou, Guangdong510282;3.Department of Neurology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong510080;4.Guangdong KingMed Institute of Forensic Evidence Identification, Guangzhou, Guangdong510182; |
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| Abstract: | 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. © 2018 West China University of Medical Sciences. All rights reserved. |
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| Keywords: | Becker muscular dystrophy Dilated cardiomyopathy Gene deletions Rod domain |
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