- A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Lynch, P.J., Tong, J., Lehane, M., Mallet, A., Giblin, L., Heffron, J.J., Vaughan, P., Zafra, G., MacLennan, D.H., McCarthy, T.V. Proc. Natl. Acad. Sci. U.S.A. (1999)