Article

Base editing as a genetic treatment for spinal muscular atrophy

2023-01-21

Abstract excerpt

Spinal muscular atrophy (SMA) is a devastating neuromuscular disease caused by mutations in the SMN1 gene. Despite the development of various therapies, outcomes can remain suboptimal in SMA infants and the duration of such therapies are uncertain. SMN2 is a paralogous gene that mainly differs from SMN1 by a C•G-to-T•A transition in exon 7, resulting in the skipping of exon 7 in most SMN2 transcripts and produ...

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Literature Corpus work: 1b93ba38-b793-5c90-8f29-a849657cc703
DOI: 10.1101/2023.01.20.524978

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