Congenital myopathies 1 – nemaline

Nemaline myopathy (NM) is a non-dystrophic congenital myopathy which currently has no therapy. The gene Nebulin (NEB) accounts for 50% of all cases of NM, with most patients being compound heterozygous for two different mutations in NEB. Patients with NM have significantly reduced levels of nebulin. Nebulin is a giant protein that is mainly expressed in the skeletal muscle, specifically in the sarcomeres. Most of the protein consists of repetitive repeats that help nebulin bind to the thin filament.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: S. Viththiyapaskaran Source Type: research