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- W1565684893 abstract "Malignant hyperthermia (MH) is the most common cause of unexpected death due to general anaesthesia using common volatile anaesthetic agents. It is an autosomal dominant pharmacogenetic abnormality of skeletal muscle with a high degree of genetic and clinical variability. It is associated with elevated calcium ion levels in skeletal muscle cells. Apparently it is caused by defect in a calcium release channel, encoded by theRYRJ gene which is located on chromosome 19q.Studies show only around 50% of MH families are linked to the RYR1 gene so that heterogeneity for this abnormality is suggested. Further studies proved more genes or a candidate regions such as chromosome 7q, 3q are involved in malignant hyperthermia susceptibility.In this search for more understanding of the malignant hyperthermia disorder and for identifying the gene or genes which may be causative in MH, some UK MH families for the RYR1 gene and other candidate regions were studied. Furthermore based on reports of the correlation between MH andmutations in the RYR1 gene in 19-linked families the screening of UK MH families for three mutations from eight putative causative mutations in the RYR] gene was carried out.The ultimate goal of this MH project has been to identify individuals susceptible to MH in advance of anaesthesia. Genetic analysis by direct mutation testing or linkage analysis potentially offers an alternative non-invasive and accurate test for diagnosis of MH susceptibility. However once the linkage relationships are firmly established, they provide a sensitive, non-invasive technique for the presymptomatic diagnosis of MH." @default.
- W1565684893 created "2016-06-24" @default.
- W1565684893 creator A5057247689 @default.
- W1565684893 date "1997-01-01" @default.
- W1565684893 modified "2023-09-27" @default.
- W1565684893 title "Molecular Genetic Analysis of Malignant Hyperthermia" @default.
- W1565684893 cites W115645141 @default.
- W1565684893 cites W1481922934 @default.
- W1565684893 cites W1509110615 @default.
- W1565684893 cites W1515514991 @default.
- W1565684893 cites W1525891657 @default.
- W1565684893 cites W1526565378 @default.
- W1565684893 cites W1542836032 @default.
- W1565684893 cites W1559841125 @default.
- W1565684893 cites W1572858085 @default.
- W1565684893 cites W173405541 @default.
- W1565684893 cites W1803375514 @default.
- W1565684893 cites W1964127633 @default.
- W1565684893 cites W1964193275 @default.
- W1565684893 cites W1965265115 @default.
- W1565684893 cites W1966750670 @default.
- W1565684893 cites W1967868688 @default.
- W1565684893 cites W1969277545 @default.
- W1565684893 cites W1969581020 @default.
- W1565684893 cites W1970174124 @default.
- W1565684893 cites W1971983860 @default.
- W1565684893 cites W1974297733 @default.
- W1565684893 cites W1975424015 @default.
- W1565684893 cites W1975665681 @default.
- W1565684893 cites W1977742420 @default.
- W1565684893 cites W1977768381 @default.
- W1565684893 cites W1978214253 @default.
- W1565684893 cites W1979488486 @default.
- W1565684893 cites W1982224824 @default.
- W1565684893 cites W1982718042 @default.
- W1565684893 cites W1983731348 @default.
- W1565684893 cites W1984380620 @default.
- W1565684893 cites W1984943088 @default.
- W1565684893 cites W1986792633 @default.
- W1565684893 cites W1988016219 @default.
- W1565684893 cites W1989632557 @default.
- W1565684893 cites W1994832509 @default.
- W1565684893 cites W1995053804 @default.
- W1565684893 cites W1995554813 @default.
- W1565684893 cites W1995677296 @default.
- W1565684893 cites W1997093700 @default.
- W1565684893 cites W2000033935 @default.
- W1565684893 cites W2002883647 @default.
- W1565684893 cites W2005123575 @default.
- W1565684893 cites W2006271310 @default.
- W1565684893 cites W2007135689 @default.
- W1565684893 cites W2007492420 @default.
- W1565684893 cites W2008375561 @default.
- W1565684893 cites W2009890467 @default.
- W1565684893 cites W2010357382 @default.
- W1565684893 cites W2010703463 @default.
- W1565684893 cites W2012236671 @default.
- W1565684893 cites W2013141129 @default.
- W1565684893 cites W2013513622 @default.
- W1565684893 cites W2016835822 @default.
- W1565684893 cites W2017550963 @default.
- W1565684893 cites W2017903490 @default.
- W1565684893 cites W2019469419 @default.
- W1565684893 cites W2020156350 @default.
- W1565684893 cites W2020177040 @default.
- W1565684893 cites W2023921634 @default.
- W1565684893 cites W2024475203 @default.
- W1565684893 cites W2024732672 @default.
- W1565684893 cites W2025734074 @default.
- W1565684893 cites W2028482561 @default.
- W1565684893 cites W2030423815 @default.
- W1565684893 cites W2031626952 @default.
- W1565684893 cites W2032343668 @default.
- W1565684893 cites W2034044880 @default.
- W1565684893 cites W2034169322 @default.
- W1565684893 cites W2034199967 @default.
- W1565684893 cites W2035233271 @default.
- W1565684893 cites W2035980957 @default.
- W1565684893 cites W2036416315 @default.
- W1565684893 cites W2037744654 @default.
- W1565684893 cites W2039462507 @default.
- W1565684893 cites W2041402011 @default.
- W1565684893 cites W2042450074 @default.
- W1565684893 cites W2045405389 @default.
- W1565684893 cites W2046065956 @default.
- W1565684893 cites W2046091247 @default.
- W1565684893 cites W2046605540 @default.
- W1565684893 cites W2047120941 @default.
- W1565684893 cites W2048937842 @default.
- W1565684893 cites W2050213576 @default.
- W1565684893 cites W2056554687 @default.
- W1565684893 cites W2058402192 @default.
- W1565684893 cites W2061941091 @default.
- W1565684893 cites W2063445451 @default.
- W1565684893 cites W2064939879 @default.
- W1565684893 cites W2065112640 @default.
- W1565684893 cites W2065663971 @default.
- W1565684893 cites W2066041942 @default.
- W1565684893 cites W2066063663 @default.
- W1565684893 cites W2066707647 @default.