Conclusions
We propose that the clinical and pathological spectrum of core-rod myopathy should be widened. A significant amount of residual nebulin expression is believed to contribute to the much milder phenotype exhibited by the patients we describe here.
Methods
We describe 2 patients with core-rod myopathy who were analyzed genetically by whole exome sequencing and evaluated clinically and pathologically. Findings were compared with those of patients with the disease of other genetic causes.
Results
Three NEB mutations were identified, 2 of which were novel. Mild clinical features, unusual patterns of muscle involvement, and atypical pathological findings were observed. Conclusions: We propose that the clinical and pathological spectrum of core-rod myopathy should be widened. A significant amount of residual nebulin expression is believed to contribute to the much milder phenotype exhibited by the patients we describe here.