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Author

G. Polido

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Oct 2026

Clinical-epidemiological profile and motor function data of patients with spinal muscular atrophy and four or more copies of SMN2

Background: The clinical phenotype of individuals with Spinal Muscular Atrophy linked to chromosome 5q (SMA-5q) with four or more copies of the SMN2 gene are still poorly described, and the initiation of treatment in the pre-symptomatic phase remains controversial. Characterizing this group is essential to guide therap...

R. Mendonça, V. Braga, G. Polido et al. · 0 citations

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