The typical form of autosomal recessive nemaline myopathy (NM) is most commonly caused by mutations in the nebulin gene (NEB). NEB mutations account for at least 50% of all NM cases worldwide, thus represent a significant disease burden. Most NEB-NM patients have a compound heterozygous genotype. Very few murine models have been developed for NEB-NM, and even fewer have mutations in Neb – instead many of the models are knock-outs of Neb. There is only one mouse model harbouring the equivalent of a patient mutation (exon 55 deletion), however this has a very severe phenotype.

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