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Decoding Neuromuscular Disorders: The Complex Role of Genetic and Epigenetic Regulators

23 May 2025

Abstract excerpt

Neuromuscular disorders (NMDs), such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies (e.g., Duchenne muscular dystrophy, DMD), are primarily driven by genetic mutations but are critically modulated by epigenetic mechanisms such as DNA methylation, histone modifications, and noncoding RNA activity. These epigenetic processes contribute to phenotypic variability and...

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PMID: 40565514
DOI: 10.3390/genes16060622

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