Epigenetic regulation in spinal muscular atrophy: emerging areas and future directions

Abstract Spinal Muscular Atrophy (SMA) is a neuromuscular disorder precipitated by mutations or deletions in the Survival Motor Neuron 1 (SMN1) gene. Although the SMN2 gene partially compensates for SMN1 functional deficiency, its expression is regulated by complex epigenetic and environmental facto...

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Bibliographic Details
Main Authors: Haoran Li, Bo Yu, Ye yuan, Nannan Chen, Jimeng Wu, Zhiqing Zhang
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
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Online Access:https://doi.org/10.1186/s13023-025-03857-3
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