Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

K. A. Quane, J. M.S. Healy, K. E. Keating, B. M. Manning, F. J. Couch, L. M. Palmucci, C. Doriguzzi, T. H. Fagerlund, K. Berg, H. Ording, D. Bendixen, W. Mortier, U. Linz, C. R. Muller, T. V. McCarthy

Research output: Contribution to journalArticle

283 Scopus citations

Abstract

Central core disease (CCD) of muscle is an inherited myopathy which is closely associated with malignant hyperthermia (MH) in humans. CCD has recently been shown to be tightly linked to the ryanodine receptor gene (RYR1) and mutations in this gene are known to be present in MH. Mutation screening of RYR1 has led to the identification of two previously undescribed mutations in different CCD pedigrees. One of these mutations was also detected in an unrelated MH pedigree whose members are asymptomatic of CCD. The data suggest a model to explain how a single mutation may result in two apparently distinct clinical phenotypes.

Original languageEnglish (US)
Pages (from-to)51-55
Number of pages5
JournalNature Genetics
Volume5
Issue number1
DOIs
StatePublished - Sep 1993

ASJC Scopus subject areas

  • Genetics

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    Quane, K. A., Healy, J. M. S., Keating, K. E., Manning, B. M., Couch, F. J., Palmucci, L. M., Doriguzzi, C., Fagerlund, T. H., Berg, K., Ording, H., Bendixen, D., Mortier, W., Linz, U., Muller, C. R., & McCarthy, T. V. (1993). Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nature Genetics, 5(1), 51-55. https://doi.org/10.1038/ng0993-51