Article

Autistic traits in myotonic dystrophy type 1 due to MBNL inhibition and RNA mis-splicing

2023-08-14

Abstract excerpt

<title>Abstract</title> <p>Tandem repeat expansions are enriched in autism spectrum disorder, including CTG expansion in the DMPK gene that underlines myotonic muscular dystrophy type 1. Although the clinical connection of autism to myotonic dystrophy is corroborated, the molecular links remained unknown. Here, we show a mechanistic path of autism via repeat expansion in myotonic dystrophy. We found that inhibiti...

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Literature Corpus work: d2e769df-a81b-5b91-8f13-ee9b1be29ee3
DOI: 10.21203/rs.3.rs-3221704/v1

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