title: Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.
abstract: BACKGROUND
  Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH).
  
  
  METHODS
  Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations. Published cases of CCD and MmD with adult onset were also reviewed.
  
  
  RESULTS
  Eight patients fulfilled the criteria for further analysis. Five RYR1 mutations, 4 of them unreported, were detected in 3 patients. Compound heterozygosity was proven in 1 case.
  
  
  CONCLUSIONS
  To our knowledge, this is the only report of adult onset associated with recessive RYR1 mutations and central core/multiminicores on muscle biopsy. Although adult patients with CCD, MmD, and minimally symptomatic MH with abnormal muscle biopsy findings usually have a mild clinical course, differential diagnosis and carrier screening is crucial for prevention of potentially life-threatening reactions to general anesthesia.
authors.affiliation: Neuropaediatrics Department, Hospital de D. Estefânia, Centro Hospitalar de Lisboa Central, E.P.E., Rua Jacinta Marto, 1169-045 Lisboa, Portugal. sofia.duarte22@hotmail.com
authors.forename: Sofia T
authors.initials: ST
authors.lastname: Duarte
authors.forename: Jorge
authors.initials: J
authors.lastname: Oliveira
authors.forename: Rośrio
authors.initials: R
authors.lastname: Santos
authors.forename: Pedro
authors.initials: P
authors.lastname: Pereira
authors.forename: Cândida
authors.initials: C
authors.lastname: Barroso
authors.forename: Isabel
authors.initials: I
authors.lastname: Conceição
authors.forename: Teresinha
authors.initials: T
authors.lastname: Evangelista
mesh_terms: D000328:Adult; D000368:Aged; D057645:Deltoid Muscle / Q000473:pathology / Q000502:physiology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D020512:Myopathy, Central Core / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D055815:Young Adult
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel