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Article

Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy

27 Aug 2025

Abstract excerpt

Background and Objectives: deletion plus a single nucleotide variant on the second allele, which can be identified through direct gene sequencing. The comprehensive characterization of patients with SMA is increasingly crucial considering emerging therapies and newborn screening initiatives. Methods: Over the past 20 years, we confirmed a molecular diagnosis of SMA in 149 patients consisting of 138 postnatal and...

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PMID: 40900970
DOI: 10.1212/nxg.0000000000200286

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