central core disease
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
A new mutation in the skeletal ryanodine receptor gene (<span class="gene" id="14708096-0-56-60">RYR1</span>) is potentially causative of malignant hyperthermia, <span class="disease" id="14708096-0-114-134">central core disease</span>, and severe skeletal malformation.