%0 Case Reports
%T NEB-related core-rod myopathy with distinct clinical and pathological features.
%A Park YE
%A Shin JH
%A Kang B
%A Lee CH
%A Kim DS
%J Muscle Nerve
%V 53
%N 3
%D Mar 2016
%M 26562614
%F 3.852
%R 10.1002/mus.24966
%X <B>BACKGROUND: </B>Mutations in the gene encoding nebulin (NEB) are known to cause several types of congenital myopathy including recessive nemaline myopathy and distal nebulin myopathy. Core-rod myopathy has recently been reported to be another type of NEB-related myopathy, and is pathologically characterized by the coexistence of cores and nemaline rods within muscle fibers.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>Three NEB mutations were identified, 2 of which were novel. Mild clinical features, unusual patterns of muscle involvement, and atypical pathological findings were observed.<BR><B>CONCLUSIONS: </B>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.