Ontology highlight
ABSTRACT:
SUBMITTER: Lindqvist J
PROVIDER: S-EPMC7264197 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Nature communications 20200601 1
Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle sarcomere. Compound-heterozygous mutations in the nebulin gene (NEB) cause typical nemaline myopathy (NM), a muscle disorder characterized by muscle weakness with limited treatment options. We created a mouse model with a missense mutation p.Ser6366Ile and a deletion of NEB exon 55, the Compound-Het model that resembles typical NM. We show that Compound-Het mice are growth-retarded and have muscle weakness. M ...[more]