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CRISPR/Cas9-mediated elimination of the LMNA c.745C>G pathogenic mutation enhances survival and cardiac function in LMNA -associated congenital muscular dystrophy

2025-02-14

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<h4>ABSTRACT</h4> LMNA -associated congenital muscular dystrophy is a currently incurable rare genetic disorder characterized by early-onset muscle weakness, dilated cardiomyopathy and respiratory failure, resulting from mutations in the LMNA gene. In this study, we assessed the potential of a CRISPR-mediated strategy to eliminate the mutant allele Lmna c.745C>T, p.R249W using a mutation specific guide (sg745T)...

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Literature Corpus work: 56620053-24b5-5d68-80be-4cbfb0d84a99
DOI: 10.1101/2025.02.13.638060

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CRISPR/Cas9-mediated elimination of the <i>LMNA</i> c.745C>G pathogenic mutation enhances survival and cardiac function in <i>LMNA</i> -associated congenital muscular dystrophy

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