Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies

Abstract Background Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported in dystrophinopathies. Most DMD missense variants are of uncertain significance and their pathogenicity interpretation remains complicated. We aimed to investigate whether DMD missense variants would ca...

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Bibliographic Details
Main Authors: Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
Format: Article
Language:English
Published: BMC 2024-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Dystrophinopathies
DMD
Missense variants
Aberrant splicing
Online Access:https://doi.org/10.1186/s13023-024-03128-7

Internet

https://doi.org/10.1186/s13023-024-03128-7

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