Figure 2

Schematic representation of the skeletal muscle ryanodine receptor (RYR1) gene and distribution of dominant and recessive (*) mutations associated with central core disease (CCD, in black) and Multi-minicore Disease (MmD, in red). Dominant mutations associated with a CCD phenotype predominantly affect the RYR1 C-terminal domain encoding the calcium release channel pore of the ryanodine receptor protein, whereas recessive mutations predominantly associated with a MmD phenotype are distributed evenly throughout the gene. N-terminal, central and C-terminal mutational hotspots within the RYR1 gene are highlighted in grey. (Figure courtesy of Dr Haiyan Zhou)