A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report

A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report

Most pathogenic DMD variants are detectable and interpretable by standard genetic testing for dystrophinopthies. However, approximately 1∼3% of dystrophinopthies patients still do not have a detectable DMD variant after standard genetic testing, most likely due to structural chromosome rearrangement...

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Bibliographic Details
Main Authors: Chang Liu, Yanyu Lu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Xinchao Cheng, Fangfang Niu, Yawen Zhao, Jianwen Deng, Lingchao Meng, Zhaoxia Wang, Yun Yuan, Zhiying Xie
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Heliyon
Subjects:
Becker muscular dystrophy
DMD
Aberrant splicing
Deep intronic variant
Case report
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024040519

Internet

http://www.sciencedirect.com/science/article/pii/S2405844024040519

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