IVCT results and RYR1 mutations found in nine MH families. The values given for each person are the average of the IVCT response of two muscle strips, except for subjects F17/14, F70/32, F93/86, F73/34, and F73/42 where data from three muscle strips were available. The new mutations are in bold. The vertical line indicates subjects from the same family (fig 1)
Mutation | Diagnosis | Contracture at 2% halothane (g) | Halothane threshold (%) | Contracture at 2 mmol/l caffeine (g) | Caffeine threshold (mmol/l) | |
---|---|---|---|---|---|---|
F79/61 | Arg163CYS | MHS-CCD | 6.02 | 0.5 | 3.99 | 0.5 |
F17/14 | Gly341Arg | MHS | 0.77 | 0.5 | 1.55 | 0.5 |
F70/32 | Arg614Leu | MHS | 1.04 | 0.5 | 2.45 | 1 |
F83172 | Arg614Leu | MHS | 0.63 | 0.5 | 0.9 | 1.5 |
F90/80 | Arg614Cys | MHS-minicore | 1.11 | 0.5 | 0.36 | 1.5 |
F3/2 | Gly2435Arg | MFIS | 0.45 | 0.5 | 0.5 | 1.5 |
F93/86 | Arg2436Leu | MHS-CCD | 6.22 | 0.5 | 5.97 | 0.5 |
‖F73/34 | Arg2454His | MHS | 1.3 | 0.5 | 1.5 | 1 |
‖F73/38 | Arg2454His | MHS | 1.15 | 0.5 | 1.05 | 1.5 |
‖F73/42 | Arg2454His | MHS | 1.2 | 0.5 | 1.05 | 1.0 |
F88/77 | Arg2458Cys | MHS-core | 1.64 | 0.5 | 0.23 | 1.5 |