2020
DOI: 10.1016/j.bja.2020.07.042
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A multi-dimensional analysis of genotype–phenotype discordance in malignant hyperthermia susceptibility

Abstract: This is a repository copy of A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.

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Cited by 6 publications
(4 citation statements)
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“…e64 -Correspondence between results in HEK-293 cells and other cellular assessment studies and IVCT results. 11 In conclusion, the RYR1 variant c.38T>G, p.Leu13Arg meets the criteria to be classified as a pathogenic variant for MH susceptibility.…”
Section: Segregation Analysis Of Thementioning
confidence: 83%
“…e64 -Correspondence between results in HEK-293 cells and other cellular assessment studies and IVCT results. 11 In conclusion, the RYR1 variant c.38T>G, p.Leu13Arg meets the criteria to be classified as a pathogenic variant for MH susceptibility.…”
Section: Segregation Analysis Of Thementioning
confidence: 83%
“…If variants suspected to be associated with MH are found and considered variants of VUS, further study of the Ca 2+ -regulating function of these variants is needed [ 2 , 16 , 17 ]. In addition, there is some discordance between the results of MH genetic analysis and diagnostic muscle contraction testing [ 18 , 19 ]. In such cases, we recommend genetic analysis and CICR testing.…”
Section: Discussionmentioning
confidence: 99%
“…76 And there is also a report showed that the CHCT test of one patient carried a pathogenic RYR1 variant identified by the EMHG was negnative. 77 Moreover, the lack of detection of pathogenic variants cannot exclude MH susceptibility, leading to false negative results. 78,79 Thus, the diagnosis of MH needs to combine clinical presentation and laboratory testing.…”
Section: Discussionmentioning
confidence: 99%
“…Although many gene pathogenic variants have been identified, evidence suggested that not all cases of MH could be explained by genetic variants in RYR1 or CACNA1S 76 . And there is also a report showed that the CHCT test of one patient carried a pathogenic RYR1 variant identified by the EMHG was negnative 77 . Moreover, the lack of detection of pathogenic variants cannot exclude MH susceptibility, leading to false negative results 78,79 .…”
Section: Discussionmentioning
confidence: 99%