The role of CACNA1S in predisposition to malignant hyperthermia by Carpenter Danielle, Ringrose Christopher, Leo Vincenzo, Morris Andrew, Robinson Rachel L, Halsall P Jane, Hopkins Philip M, Shaw Marie-Anne in BMC medical genetics (2009).

[PMID: 19825159] PubMed


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 alpha1 subunit of the DHPR, in order to establish whether CACNA1S plays a major role in MH susceptibility in the UK.

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