Department of Biology, Illinois Institute of Technology, Chicago, IL, 60616, USA

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes...

Published in Nature Communications

Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is associated with twisted actin filaments and altered tropomyosin and troponin behaviour.