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Table 4 Effect of causative ryanodine receptor type 1 mutation

From: Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study

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+

  1. 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.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172