Why the study?
Is the Arg1086His mutation in the CACNA1S gene associated with malignant hyperthermia susceptibility in a North American population?
Population
266 individuals from a North American population, comprising 154 malignant hyperthermia normal and 112…
Comparison
Screening for the Arg1086His mutation in the… vs Malignant hyperthermia normal (MHN) individuals.
Design
Case-control
Authors
Loading...
Arg1086His was associated with MHS in this North American family; leaves open its diagnostic role and prevalence pending larger validation studies.
Is the Arg1086His mutation in the CACNA1S gene associated with malignant hyperthermia susceptibility in a North American population?
The Arg1086His mutation in the CACNA1S gene is associated with malignant hyperthermia in a specific family and is present in approximately 1% of the North American malignant hyperthermia susceptible population.
Stewart et al. (2001) studied this question.
Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context: