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Article

Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy.

Journal of clinical laboratory analysis - 1 Nov 2023

Xie Zhiying, Lu Yunlong, Liu Chang, Sun Chengyue, Yu Jiaxi, Ling Chen, Luan Xinghua, Wang Wei, Wang Li, Liang Yanhong, Luo Qianbo, Meng Lingchao, Wang Zhaoxia, Yuan Yun

Abstract excerpt

BACKGROUND: An accurate genetic diagnosis of Becker muscular dystrophy (BMD) can be sometimes challenging due to deep intronic DMD variants. Here, we report on the genetic diagnosis of a BMD patient with a novel deep-intronic splice-altering variant in DMD. METHODS: The index case was a 3.8-year-old boy who was suspected of having a diagnosis of BMD based on his clinical, muscle imaging, and pathological...

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Identifiers

PMID: 37968799
DOI: 10.1002/jcla.24987
PMCID: PMC10749487

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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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