title: NEB-related core-rod myopathy with distinct clinical and pathological features.
abstract: BACKGROUND
  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.
  
  
  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.
authors.affiliation: Department of Neurology, Pusan National University Yangsan Hospital, Beomo-ri, Mulgeum-eup, Yangsan, 626-770, Gyeongnam, South Korea.|Biomedical Research Institute, Pusan National University Hospital, Busan, South Korea.
authors.forename: Young-Eun
authors.initials: YE
authors.lastname: Park
authors.affiliation: Department of Neurology, Pusan National University Yangsan Hospital, Beomo-ri, Mulgeum-eup, Yangsan, 626-770, Gyeongnam, South Korea.|Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital, Gyeongnam, South Korea.
authors.forename: Jin-Hong
authors.initials: JH
authors.lastname: Shin
authors.affiliation: Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital, Gyeongnam, South Korea.
authors.forename: Boram
authors.initials: B
authors.lastname: Kang
authors.affiliation: Biomedical Research Institute, Pusan National University Hospital, Busan, South Korea.|Department of Pathology, Pusan National University, Busan, South Korea.
authors.forename: Chang-Hoon
authors.initials: CH
authors.lastname: Lee
authors.affiliation: Department of Neurology, Pusan National University Yangsan Hospital, Beomo-ri, Mulgeum-eup, Yangsan, 626-770, Gyeongnam, South Korea.|Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital, Gyeongnam, South Korea.
authors.forename: Dae-Seong
authors.initials: DS
authors.lastname: Kim
mesh_terms: D000251:Adenosine Triphosphatases / Q000378:metabolism; D000328:Adult; D002648:Child; D003402:Creatine Kinase / Q000378:metabolism; D003576:Electron Transport Complex IV; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology*; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology*; D011859:Radiography; D015898:Tomography Scanners, X-Ray Computed
chemical_list: D009124:Muscle Proteins; C035620:nebulin; D003576:Electron Transport Complex IV; D003402:Creatine Kinase; D000251:Adenosine Triphosphatases
keywords: core-rod myopathy; cores; nebulin; nebulin expression; nemaline rods; next generation sequencing