Mutations transmembrane core

Lynch, P. J., Tong, J., Lehane, M., Mallet, A., Giblin, L., Heffron, J. J., Vaughan, P., Zafra, G., MacLennan, D. H., and McCarthy, T. V. (1999). A Mutation in the Transmembrane/Luminal Domain of the Ryanodine Receptor is Associated with Abnormal Ca2+ Release Channel Function and Severe Central core Disease. Proc Natl Acad Sci USA 96(7) 4164-9. 

Shepherd, S., Ellis, F., Halsall, J., Hopkins, P., and Robinson, R. (2004). RYR1 Mutations in UK Central Core Disease Patients More Than Just the C-Terminal Transmembrane Region of the RYR1 Gene. J Med Genet 41(3) e33. 

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