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Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia.
- Source :
-
Clinical genetics [Clin Genet] 1994 Dec; Vol. 46 (6), pp. 401-4. - Publication Year :
- 1994
-
Abstract
- We have examined 48 Danish families in which malignant hyperthermia reactions have occurred, with respect to three of six published mutations in the gene for the calcium release channel of sarcoplasmic reticulum (the RYR1 gene) believed to cause malignant hyperthermia susceptibility in man. The mutations are Arg614Cys, also known as the "pig mutation"; Arg163Cys; and Ile403Met. The only mutation found was Arg163Cys, which was detected in only one family. The results of this study indicate that other mutations must underlie the disorder in most Danish malignant hyperthermia-susceptible families, and that the "pig mutation" is not a frequent cause of malignant hyperthermia susceptibility in Denmark.
- Subjects :
- Arginine genetics
Base Sequence
Cysteine genetics
DNA Mutational Analysis
DNA Primers
Denmark
Female
Humans
Male
Molecular Epidemiology
Molecular Sequence Data
Pedigree
Ryanodine Receptor Calcium Release Channel
Sarcoplasmic Reticulum genetics
Calcium Channels genetics
Malignant Hyperthermia genetics
Muscle Proteins genetics
Point Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 0009-9163
- Volume :
- 46
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 7889656
- Full Text :
- https://doi.org/10.1111/j.1399-0004.1994.tb04406.x