[HTML][HTML] Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation …
Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disorder of skeletal
muscle that segregates with> 60 mutations within the MHS-1 locus on chromosome 19
coding for ryanodine receptor type 1 (RyR1). Although some MH RyR1s have been shown
to enhance sensitivity to caffeine and halothane when expressed in non-muscle cells, their
influence on EC coupling can only be studied in skeletal myotubes. We therefore expressed
WT RyR1, six of the most common human MH RyR1s (R163C, G341R, R614C, R2163C …
muscle that segregates with> 60 mutations within the MHS-1 locus on chromosome 19
coding for ryanodine receptor type 1 (RyR1). Although some MH RyR1s have been shown
to enhance sensitivity to caffeine and halothane when expressed in non-muscle cells, their
influence on EC coupling can only be studied in skeletal myotubes. We therefore expressed
WT RyR1, six of the most common human MH RyR1s (R163C, G341R, R614C, R2163C …
