1.
Anesth Analg
; 109(4): 1273-7, 2009 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19762757
RESUMO
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.