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Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population

1 Apr 2025

Abstract excerpt

Background and Objectives: gene are insufficiently described, and presymptomatic treatment remains controversial. Methods: This is a cohort study that analyzed data from SMA patients with zero SMN1 and 4 SMN2 copies collected in the "Registre SMA France" to describe epidemiology, clinical presentation, and course. Results: = 0.01). Sixty-five percent of patients used a wheelchair. Scoliosis surgery and...

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PMID: 40212804
DOI: 10.1212/nxg.0000000000200222

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