Article

A self-reported Brazilian registry of spinal muscular atrophy: data from natural history, genetic characteristics, and multidisciplinary care

2023-07-20

Abstract excerpt

<title>Abstract</title> <p><bold>Background. </bold>Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the <italic>SMN1</italic> gene. This study is intended to describe the key demographic, clinical and genetic characteristics, and natural history data of patients with SMA registered through a self-reported survey by patients or their parents. <bold>Results. </bold>By January 20...

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Literature Corpus work: 123b0a4c-7f35-5541-b371-175cb50fbc75
DOI: 10.21203/rs.3.rs-2882037/v1

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