Abstract Nemaline myopathy (NM) is a rare and hereditary myopathy caused by the fact that several related genes have been identified, thus exhibiting significant clinical and genetic heterogeneity. This study retrospectively analyzed 9 patients with NM. We utilized WES testing and bioinformatics analysis was performed on 9 families. Normal Mode Analysis (NMA) was used to evaluate the impact of missense variants in the NEB gene on the thermodynamic stability of the nebulin protein.
