title: Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan.
abstract: BACKGROUND
  Our primary objective was to detect malignant hyperthermia (MH)-susceptible persons and thereby prevent MH episodes. We identified variants in the ryanodine receptor isoform 1 using molecular pedigree analysis.
  
  
  METHODS
  Nineteen exons covering major hotspots were chosen for the primary screening by polymerase chain reaction, denaturing high performance liquid chromatography, and confirmed by direct sequencing.
  
  
  RESULTS
  Three novel variants involving amino acid changes were identified in two unrelated families as Met2698Arg, Glu2724Lys in exon 51 and Leu2785Val in exon 53.
  
  
  CONCLUSIONS
  Three novel ryanodine receptor isoform 1 variants located either near or within the central domain might predispose carriers to MH.
authors.affiliation: Department of Anesthesiology, Chiayi Chang Gung Memorial Hospital, Chiayi, Taiwan, ROC.
authors.forename: Po-Liang
authors.initials: PL
authors.lastname: Chen
authors.forename: Yao-Wen
authors.initials: YW
authors.lastname: Chang
authors.forename: Chun-Yu
authors.initials: CY
authors.lastname: Chen
authors.forename: Yung-Chih
authors.initials: YC
authors.lastname: Hsiang
authors.forename: Yuan-Ji
authors.initials: YJ
authors.lastname: Day
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000758:Anesthesia / Q000009:adverse effects*; D044466:Asian People / Q000235:genetics; D005091:Exons; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000208:ethnology / Q000209:etiology* / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D018570:Risk Assessment; D012307:Risk Factors; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D013624:Taiwan
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel