Article

Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion

2024-12-17

Abstract excerpt

<title>Abstract</title> <p>Biallelic pathogenic variants in the nebulin (<italic>NEB</italic>) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in <italic>NEB</italic>. Previously, a mouse model of <italic>Neb</italic><sup>ΔExon55</sup> was developed; however, it presented an uncharacteristically severe phenotype with a...

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Literature Corpus work: aefd0e77-481f-5e07-9f3f-b59dea3543f5
DOI: 10.21203/rs.3.rs-5456324/v1

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