[Homozygous and compound heterozygous RYR1 mutations : New findings on prevalence and penetrance of malignant hyperthermia.]

CONCLUSION: In the two patients described the presence of two mutated RYR1 alleles seemed to have an additive effect on the functional restriction of the (RYR1 receptor and to lead to a stronger response both in the IVCT and with regard to clinical signs. The patients with no detected RYR1 mutations possibly have a RYR1 mutation with smaller effects outside the hot spot regions tested and/or false positive IVCT results. The data from a small patient group indicate a substantially higher prevalence of MH with a correspondingly lower penetrance in the German population than previously assumed.
PMID: 25047158 [PubMed - as supplied by publisher]

Source: Der Anaesthesist - July 23, 2014 Category: Anesthesiology Authors: Wolak S, Rücker B, Kohlschmidt N, Doetsch S, Bartsch O, Zechner U, Tzanova I Tags: Anaesthesist Source Type: research