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Article

Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy.

Neuromuscular disorders : NMD - 1 Oct 2023

Liu Chang, Ma Jiajian, Lu Yanyu, Lu Yunlong, Mai Jiahui, Bai Li, Wang Yikang, Zheng Yilei, Yu Meng, Zheng Yiming, Deng Jianwen, Meng Lingchao, Zhang Wei, Wang Zhaoxia, Yuan Yun, Xie Zhiying

Abstract excerpt

We aimed to investigate the clinical, pathological, and genetic characteristics of Chinese female dystrophinopathy and to identify possible correlations among them. One hundred forty genetically and/or pathologically confirmed female DMD variant carriers were enrolled, including 104 asymptomatic carriers and 36 symptomatic carriers. Twenty of 36 symptomatic and 16 of 104 asymptomatic carriers were sporadic with...

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Identifiers

PMID: 37716855
DOI: 10.1016/j.nmd.2023.08.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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