|
rs118192172
|
|
Malignant hyperpyrexia due to anesthesia
|
|
0.090 |
GeneticVariation
|
BEFREE |
Genetic screening for MH-related mutations in the RYR1 gene revealed the presence of a homozygous 1840C-->T base exchange (Arg614Cys substitution) in this patient.
|
11493496 |
2001 |
|
rs118192172
|
|
Malignant hyperpyrexia due to anesthesia
|
|
0.090 |
GeneticVariation
|
BEFREE |
Despite inclusion of only one (Arg614Cys) of all known MH mutations, the study emphasizes the practical use of a genetic approach for determination of a positive MH diagnosis.
|
11553045 |
2001 |
|
rs118192172
|
|
Malignant hyperpyrexia due to anesthesia
|
|
0.090 |
GeneticVariation
|
BEFREE |
Screening for these 21 mutations in 105 MH families including 10 CCD families phenotyped by the in vitro contracture test (IVCT) according to the European protocol revealed the following approximate distribution: 9% Arg-614-Cys, 1% Arg-614-Leu, 1% Arg-2163-Cys, 1% Val-2168-Met, 3% Thr-2206-Met and 7% Gly-2434-Arg.
|
10484775 |
1999 |
|
rs118192172
|
|
Malignant hyperpyrexia due to anesthesia
|
|
0.090 |
GeneticVariation
|
BEFREE |
These findings may suggest that it is necessary to reconsider the specificity of the IVCT and the role of C1840T as a cause of MH susceptibility in some families exhibiting this mutation.
|
9520251 |
1997 |
|
rs118192172
|
|
Malignant hyperpyrexia due to anesthesia
|
|
0.090 |
GeneticVariation
|
BEFREE |
Because there is strong evidence supporting the causal nature of the Arg614Cys mutation, the discordant persons are not closely related within the pedigree as they would be if a second MH mutation were segregating, and the CHCT is not 100% accurate, we propose that the observed discordance between DNA test results and CHCT assignment in this kindred results from two false-positive diagnoses by the CHCT.
|
8602662 |
1996 |
|
rs118192172
|
|
Malignant hyperpyrexia due to anesthesia
|
|
0.090 |
GeneticVariation
|
BEFREE |
The frequencies of occurrence of the C1840T and C487T mutations were 2% and 1%, respectively, in MH-positive subjects and were the only two mutations identified.
|
7547049 |
1995 |
|
rs118192172
|
|
Malignant hyperpyrexia due to anesthesia
|
|
0.090 |
GeneticVariation
|
BEFREE |
A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia.
|
1510267 |
1992 |
|
rs118192172
|
|
Malignant hyperpyrexia due to anesthesia
|
|
0.090 |
GeneticVariation
|
BEFREE |
Several observations support the view that a single RYR1 mutation is causal of malignant hyperthermia in all breeds of pigs and in at least some human families: the substitution of Cys for Arg615 as the sole deduced amino acid sequence change in a comparison of malignant hyperthermia and normal porcine RYR1 cDNAs; the linkage of this mutation to malignant hyperthermia in over 450 pigs in six breeds, including 338 meioses; and the appearance of the corresponding mutation, Cys for Arg614, across a species barrier, in a few human families, where it also cosegregates with malignant hyperthermia.
|
1329295 |
1992 |
|
rs118192172
|
|
Malignant hyperpyrexia due to anesthesia
|
|
0.090 |
GeneticVariation
|
BEFREE |
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
|
1774074 |
1991 |