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

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

Abstract Biallelic pathogenic variants in the nebulin (NEB) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in NEB. Previously, a mouse model of Neb ΔExon55 was developed; however, it presented an unchara...

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Bibliographic Details
Main Authors: Zachary Coulson, Justin Kolb, Nesrin Sabha, Esmat Karimi, Zaynab Hourani, Coen Ottenheijm, Henk Granzier, James J. Dowling
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Skeletal Muscle
Subjects:
Nebulin
Nemaline myopathy
Pseudoexon
Transcript stabilization
CRISPR
Phenotyping
Online Access:https://doi.org/10.1186/s13395-025-00378-2
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https://doi.org/10.1186/s13395-025-00378-2

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