Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
J Lindqvist, W Ma, F Li, Y Hernandez, J Kolb… - Nature …, 2020 - nature.com
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. Muscles have a …
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. Muscles have a …