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RNA sequencing facilitates the identification of genetic causes of Duchenne muscular dystrophy and proposes a stepwise DMD diagnostic procedure.

Gene - 5 Feb 2025

Luo Huaxia, Liu Yidan, Wei Cuijie, Xiong Hui

Abstract excerpt

A certain percentage of Duchenne muscular dystrophy (DMD) patients remain genetically undiagnosed after routine genetic testing. Accurate genetic diagnosis is crucial for determining eligibility for mutation-specific therapies and providing relatives with reliable genetic and reproductive counselling. In this study, we utilized RNA sequencing to achieve precise genetic diagnoses in three DMD patients. We...

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Identifiers

PMID: 39549780
DOI: 10.1016/j.gene.2024.149089

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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