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Article

Two novel deep intronic variants cause Duchenne muscular dystrophy by splice-altering mechanism.

Neuromuscular disorders : NMD - 1 Dec 2024

Zhao Lei, Hu Chaoping, Pan Shirang, Wang Depeng, Wang Yi, Li Xihua

Abstract excerpt

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness, due to mutations in the DMD gene, which encodes the dystrophin protein. While mutations within the coding regions of DMD have been extensively studied, recent focus has shifted to deep intronic variants for their potential impact on disease severity. Here, we characterize two deep intronic...

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PMID: 39504661
DOI: 10.1016/j.nmd.2024.104470

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