In some families, central core disease is caused by a mutation in the ryanodine receptor (RYR1) gene, located on chromosome 19. This gene carries the instructions for a protein that is involved in calcium release in muscle. It is not known exactly how mutations in this gene cause the condition. In many other families, the genetic cause has not been determined.
Central core disease is inherited in an autosomal dominant pattern, although many cases occur sporadically, sometimes caused by autosomal recessive inheritance with no previous family history. Autosomal dominant inheritance means if a parent has the condition, there is a 50 percent chance that each child will also have the condition. Either of the parents can pass on the mutation, and both male and female children can be affected.