-
Anesthesia and analgesia · Oct 2009
Case ReportsNovel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan.
- Po-Liang Chen, Yao-Wen Chang, Chun-Yu Chen, Yung-Chih Hsiang, and Yuan-Ji Day.
- Department of Anesthesiology, Chiayi Chang Gung Memorial Hospital, Chiayi, Taiwan, ROC.
- Anesth. Analg. 2009 Oct 1; 109 (4): 127312771273-7.
BackgroundOur 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.MethodsNineteen exons covering major hotspots were chosen for the primary screening by polymerase chain reaction, denaturing high performance liquid chromatography, and confirmed by direct sequencing.ResultsThree novel variants involving amino acid changes were identified in two unrelated families as Met2698Arg, Glu2724Lys in exon 51 and Leu2785Val in exon 53.ConclusionsThree novel ryanodine receptor isoform 1 variants located either near or within the central domain might predispose carriers to MH.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*,_underline_or**bold**. - Superscript can be denoted by
<sup>text</sup>and subscript<sub>text</sub>. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3., hyphens-or asterisks*. - Links can be included with:
[my link to pubmed](http://pubmed.com) - Images can be included with:
 - For footnotes use
[^1](This is a footnote.)inline. - Or use an inline reference
[^1]to refer to a longer footnote elseweher in the document[^1]: This is a long footnote..