Classification of RyR1 mutation
|
Clinical grading scale
|
Contracture (mN)
| |
Threshold
| |
---|
| |
2 vol% halothane
|
2 mmol l-1caffeine
|
halothane (vol%)
|
Caffeine (mmol l-1)
|
---|
Causative
|
51.10 ± 20.67* +
|
16.77 ± 9.84 + *
|
10.94 ± 7.24*
|
0.81 ± 0.44 + *
|
1.14 ± 0.63 + *
|
Unknown causality
|
38.08 ± 17.46*
|
11.69 ± 8.99*
|
8.73 ± 6.90*
|
1.10 ± 0.58*
|
1.50 ± 0.64*
|
None detected
|
37.55 ± 16.90+
|
11.43 ± 10.90+
|
7.52 ± 10.02*
|
1.30 ± 0.83+
|
2.35 ± 7.70+
|
- Causative ryanodine receptor type 1 (RyR1) mutations yield greater contractures, lower thresholds and higher raw score in the clinical grading scale (CGS). Results of 189 patients are shown as mean ± standard deviation, Mann–Whitney U test was performed and significant differences (p < 0.05.) were marked with asterisk (*) and cross (+). Despite caffeine contractures there were no significant differences between unknown causality vs. none detected. RyR1 polymorphisms (n = 2), double RyR1 mutations (n = 4) and CaV1.1 mutations (n = 1) are not included in this table.