The genetics of malignant hyperthermia.
The genetic evaluation of the ryanodine type one receptor (RYR1) gene is unlikely to be a useful screening test of malignant hyperthermia susceptibility. But when significant suspicion of malignant hyperthermia has been raised by well-documented clinical events or strong family history, the genetic evaluation of RYR1 could secure a diagnosis and indicate appropriate treatment for both the index patient and many relatives of all ages, including the youngest.
Brandom
Barbara W
BW
University of Pittsburgh School of Medicine, Department of Anesthesiology, Children's Hospital of Pittsburgh, PA 15213, USA. bwb@pitt.edu
D000818:Animals; D002648:Child; D005787:Gene Frequency; D006801:Humans; D008305:Malignant Hyperthermia / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D013552:Swine
D019837:Ryanodine Receptor Calcium Release Channel