Identification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia
Keyword(s):
Malignant hyperthermia (MH) is a potentially fatal autosomal dominant disorder of the skeletal muscle and is triggered in susceptible individuals by commonly used inhalation anaesthetics and depolarizing muscle relaxants. Around 80% of the affected family are linked to the ryanodine receptor (RYR1) gene. More than 300 mutations in RYR1 have been associated with the MH-susceptible phenotype. Here we report the identification by two independent methods of a novel mutation associated with the MH-susceptible phenotype in the RYR1 gene.
2008 ◽
Vol 62
(4-5)
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pp. 156-161
2020 ◽
Keyword(s):
2008 ◽
Vol 52
(8)
◽
pp. 1272-1276
◽
2004 ◽
Vol 286
(4)
◽
pp. C821-C830
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Keyword(s):