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In response to heat, mutations in RYR1 cause excessive amounts of calcium to leak from the storage compartment and trigger uncontrolled muscle contractions.
1), which roughly correspond to the RYR1 regions targeted by mutations causing malignant hyperthermia (MHS1; OMIM 145600) or central core disease (CCD; OMIM 117000) (14-29).
Malignant hyperthermia in infancy and identification of novel RYR1 mutation.
Nine different causative RYR1 mutations had been identified in families of patients who had been administered the 329 triggering anaesthetics.
Genetic variation in RYR1 and malignant hyperthermia phenotypes.
Reports of discordance between mutations and IVCT phenotype have called into question the causal role of some RYR1 mutations (31-33), although the lack of specificity of the IVCT (34-37) or the presence of additional MH mutations (31, 37, 38) may account for some discrepancies.
We recruited 52 Italian families (1-12 individuals in each family) for RYR1 DNA analysis.
2+]] at the single cell level following exposure to the RYR1 activators caffeine, halothane and 4-CmC in conjunction with traditional CICR testing.
The accelerated group included two individuals carrying an RYR1 mutation and two patients who had experienced an MH episode (CGS 5-6).
Key Words: malignant hypothermia, genetics, diagnosis, physiopathology, DNA sequencing, RYR1, ryanodine receptor, calcium release channel, in vitro contracture test, novel mutation, general anaesthesia, chromosome 19
Of the over 180 RYR1 mutations, only a relatively small number (29 or 30 (12,13)) have been shown to be causative and can thus be used in DNA-based diagnosis.
genetic analysis showed a point mutation in RYR1 7522 C [right arrow] T, resulting in the amino acid change R2508C in exon 47.
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- Ryosuke Iso
- Rysakov, Nikolai
- Rysakov, Nikolai Ivanovich
- Ryskal, Inna
- Ryskal, Inna Valerievna
- Ryskulov, Muratbek
- Ryskulov, Turar
- Ryskulov, Turar Ryskulovich