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Article

The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.

Human genomics - 16 Sept 2024

Ma Yunting, Gui Chunrong, Shi Meizhen, Wei Lilin, He Junfang, Xie Bobo, Zheng Haiyang, Lei Xiaoyun, Wei Xianda, Cheng Zifeng, Zhou Xu, Chen Shaoke, Luo Jiefeng, Huang Yan, Gui Baoheng

Abstract excerpt

BACKGROUND: Deletion or duplication in the DMD gene is one of the most common causes of Duchenne and Becker muscular dystrophy (DMD/BMD). However, the pathogenicity of complex rearrangements involving DMD, especially segmental duplications with unknown breakpoints, is not well understood. This study aimed to evaluate the structure, pattern, and potential impact of rearrangements involving DMD duplication....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Duchenne

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Identifiers

PMID: 39285482
DOI: 10.1186/s40246-024-00653-1
PMCID: PMC11406873

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