Figure 29-3
Ryanodine receptor 1 gene (RYR1)
structure and mutational hot spots. Amino- and carboxyl-terminal domains are indicated
as NH2
and COOH, respectively. Myoplasmic and transmembrane domains are
shown at the bottom and arrows indicate dihydropyridine
receptor (DHPR) and calmodulin binding sites. Red boxes indicate mutational hot
spots with amino acid numbers below. The ovals above represent mutations associated
with malignant hyperthermia (gray), central core disease (black), or both (red).
(Courtesy of N. Sambuughin, Barrow Neurological Institute, Phoenix, AZ.)