Abstract |
Malignant hyperthermia (MH) is a potentially fatal autosomal dominant disorder of skeletal muscle and is triggered in susceptible people by all commonly used inhalational anaesthetics. To date, the ryanodine receptor gene ( RYR1) has been shown to be mutated in a small number of malignant hyperthermia susceptible (MHS) cases. To determine if a common RYR1 mutation exists that might account for a significant number of MHS cases, we have investigated the RYR1 gene in unrelated patients for the presence of new mutations by the single-stranded conformation polymorphism method and have identified a novel Gly341Arg mutation which accounts for approximately 10% of Caucasian MHS cases. The implications of this common mutation in MHS diagnosis and heterogeneity studies are discussed.
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Authors | K A Quane, K E Keating, B M Manning, J M Healy, K Monsieurs, J J Heffron, M Lehane, L Heytens, R Krivosic-Horber, P Adnet |
Journal | Human molecular genetics
(Hum Mol Genet)
Vol. 3
Issue 3
Pg. 471-6
(Mar 1994)
ISSN: 0964-6906 [Print] England |
PMID | 8012359
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Calcium Channels
- DNA Primers
- Muscle Proteins
- Ryanodine Receptor Calcium Release Channel
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Topics |
- Base Sequence
- Calcium Channels
(genetics)
- DNA Primers
- Female
- Humans
- Male
- Malignant Hyperthermia
(diagnosis, genetics)
- Molecular Sequence Data
- Muscle Proteins
(genetics)
- Mutation
- Pedigree
- Polymorphism, Genetic
- Ryanodine Receptor Calcium Release Channel
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