Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

نویسندگان

چکیده

Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by an onset at 6 months of age or younger, inability to sit without support, and deficient levels survival motor neuron (SMN) protein. Risdiplam orally administered small molecule that modifies SMN2 pre–messenger RNA splicing increases functional SMN protein in blood.

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ژورنال

عنوان ژورنال: The New England Journal of Medicine

سال: 2021

ISSN: ['0028-4793', '1533-4406']

DOI: https://doi.org/10.1056/nejmoa2102047