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Article

A new pseudoexon activation due to ultrarare branch point formation in Duchenne muscular dystrophy.

Neuromuscular disorders : NMD - 1 Feb 2024

Xie Zhiying, Sun Chengyue, Liu Chang, Lu Yanyu, Chen Bin, Wu Rui, Liu Yanru, Liu Ran, Peng Qing, Deng Jianwen, Meng Lingchao, Wang Zhaoxia, Zhang Wei, Yuan Yun

Abstract excerpt

Deep-intronic variants that create or enhance a splice site are increasingly reported as a significant cause of monogenic diseases. However, deep-intronic variants that activate pseudoexons by affecting a branch point are extremely rare in monogenic diseases. Here, we describe a novel deep-intronic DMD variant that created a branch point in a Duchenne muscular dystrophy (DMD) patient. A 7.0-year-old boy was...

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Source

Identifiers

PMID: 38194733
DOI: 10.1016/j.nmd.2023.12.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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