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Article

Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants.

Journal of neurology - 1 Feb 2023

Xie Zhiying, Sun Chengyue, Liu Chang, Xie Zhihao, Wei Luhua, Yu Jiaxi, Ling Chen, Guo Xuejun, Liu Yilin, Yu Meng, Leng Yinglin, Meng Lingchao, Sun Yunchuang, Deng Jianwen, Leal Suzanne M, Schrauwen Isabelle, Wang Zhaoxia, Yuan Yun

Abstract excerpt

BACKGROUND: Phenotypic heterogeneity within or between families with a same deep-intronic splice-altering variant in the DMD gene has never been systematically analyzed. This study aimed to determine the phenotypic and genetic characteristics of patients with deep-intronic DMD variants. METHODS: Of 1338 male patients with a suspected dystrophinopathy, 38 were confirmed to have atypical pathogenic DMD variants via...

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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: 36319768
DOI: 10.1007/s00415-022-11432-0

Provenance

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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