The role of CACNA1S in predisposition to malignant hyperthermia

  title={The role of CACNA1S in predisposition to malignant hyperthermia},
  author={Danielle Carpenter and Christopher Ringrose and Vincenzo Leo and Andrew P. Morris and Rachel L. Robinson and P Jane Halsall and Philip M Hopkins and M B Shaw},
  journal={BMC Medical Genetics},
  pages={104 - 104}
Malignant hyperthermia (MH) is an inherited pharmacogenetic disorder of skeletal muscle, characterised by an elevated calcium release from the skeletal muscle sarcoplasmic reticulum. The dihydropyridine receptor (DHPR) plays an essential role in excitation-contraction coupling and calcium homeostasis in skeletal muscle. This study focuses on the gene CACNA1S which encodes the α1 subunit of the DHPR, in order to establish whether CACNA1S plays a major role in MH susceptibility in the UK. We… CONTINUE READING