title: Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.
abstract: Ryanodine receptor 1 (RYR1), myosin heavy chain 7 (MYH7), and selenoprotein N1 (SEPN1) mutations are associated with core myopathies. RYR1 mutations cause most cases of central core disease (CCD).
  
  
  
  We screened 8 Chinese patients with clinicopathological diagnosis of CCD. Genetic analysis was carried out by targeted next generation sequencing (NGS) to identify causative genes. Variants were assessed for pathogenicity using bioinformatic approaches, and NGS results were confirmed by Sanger sequencing.
  
  
  
  One novel (p.L4578V) and heterozygous missense mutations in RYR1 were identified in 7 patients. Two patients carried a novel mutation, 1 had p.M4640R, 3 had p.R4861H, and 1 had p.R4861C. All patients had mild to moderate severity phenotypes. Histopathological findings demonstrated central cores and type I fiber predominance.
  
  
  
  NGS is an efficient strategy to identify variants in RYR1 in CCD. However, genetic results revealed by NGS must be combined with clinicopathologic features to validate the diagnosis. Muscle Nerve, 2016 Muscle Nerve 54: 432-438, 2016.
authors.affiliation: Department of Neuromuscular Disease, Third Hospital of Hebei Medical University, 139 Ziqiang Road, Shijiazhuang City, Hebei Province, 050051, PR China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Neuromuscular Disease, Third Hospital of Hebei Medical University, 139 Ziqiang Road, Shijiazhuang City, Hebei Province, 050051, PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Hu
authors.affiliation: Department of Neuromuscular Disease, Third Hospital of Hebei Medical University, 139 Ziqiang Road, Shijiazhuang City, Hebei Province, 050051, PR China.
authors.forename: Zhe
authors.initials: Z
authors.lastname: Zhao
authors.affiliation: Department of Neuromuscular Disease, Third Hospital of Hebei Medical University, 139 Ziqiang Road, Shijiazhuang City, Hebei Province, 050051, PR China.
authors.forename: Hongrui
authors.initials: H
authors.lastname: Shen
authors.affiliation: Department of Neuromuscular Disease, Third Hospital of Hebei Medical University, 139 Ziqiang Road, Shijiazhuang City, Hebei Province, 050051, PR China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Bing
authors.affiliation: Department of Neuromuscular Disease, Third Hospital of Hebei Medical University, 139 Ziqiang Road, Shijiazhuang City, Hebei Province, 050051, PR China.
authors.forename: Nan
authors.initials: N
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004576:Electromyography; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D008297:Male; D046529:Microscopy, Electron, Transmission; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics*; D020512:Myopathy, Central Core / Q000235:genetics* / Q000473:pathology; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D055815:Young Adult
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel
keywords: central core disease; congenital myopathy; core myopathies; next generation sequencing; ryanodine receptor 1; targeted genes enrichment