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Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population

2 Dec 2024

Abstract excerpt

Copy number variations in the SMN1 gene on chromosome 5 are the primary cause of Spinal Muscular Atrophy (SMA) disease, characterized by muscle weakness and degeneration due to impaired alpha motor neurons in the spinal cord. To obtain a comprehensive molecular understanding of the SMA, including carriers, silent carriers, and patients in the Iranian population, we analyzed data from 5224 individuals referred to...

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PMID: 39622884
DOI: 10.1038/s41598-024-76815-x

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