Article

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

2022-05-31

Abstract excerpt

<title>Abstract</title> <p>Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting from biallelic alterations of the <italic>SMN1</italic> gene: deletion, gene conversion or, in rare cases, intragenic variants. The disease severity is mainly influenced by the copy number of <italic>SMN2</italic>, a nearly identical gene, which produces only low amounts of full-length (FL) mRNA. He...

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Literature Corpus work: 096ad0e5-55ff-5906-a1f2-b123545fa33b
DOI: 10.21203/rs.3.rs-1666246/v1

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