Malignant hyperthermia: a review.
Livingston, United States. In Orphanet J Rare Dis, 2014
Less than 1 % of variants have been found in CACNA1S but not all of these are causal.
Skeletal muscle excitation-contraction coupling: who are the dancing partners?
Canberra, Australia. In Int J Biochem Cell Biol, 2014
There is an overwhelming body of work supporting the idea that excitation-contraction coupling in skeletal muscle depends on a physical interaction between the skeletal muscle isoform of the dihydropyridine receptor L-type Ca(2+) channel and the skeletal isoform of the ryanodine receptor Ca(2+) release channel.
Novel insights into the pathomechanisms of skeletal muscle channelopathies.
London, United Kingdom. In Curr Neurol Neurosci Rep, 2012
Recent detailed characterizations of human genetic mutations in voltage-gated muscle sodium (gene: SCN4A), chloride (gene: CLCN1), calcium (gene: CACNA1S), and inward rectifier potassium (genes: KCNJ2, KCNJ18) channels have resulted in new insights into disease mechanisms, clinical phenotypic variation, and therapeutic options.