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

Nature Genetics volume 5, pages 51–55 (1993)Cite this article

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.

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Author notes

  1. F. J. Couch

    Present address: Howard Hughes Medical Institute, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, 48109, USA

Authors and Affiliations

  1. Department of Biochemistry, University College, Cork, Ireland

    K. A. Quane, J.M.S. Healy, K. E. Keating, B. M. Manning, F. J. Couch & T. V. McCarthy

  2. Centro per le Malattie Neuromuscolari “Paolo Peirolo”, Clinica Neurologica II, Universita” Delgi Studi di Torino, 10126, Torino, Italy

    L. M. Palmucci & C. Doriguzzi

  3. Department of Anaesthesia, Ulleval University Hospital, Kirkeveien 166, N–0407, Oslo, Norway

    T. H. Fagerlund

  4. Department of Medical Genetics, Ulleval University Hospital, Institute of Medical Genetics, University of Oslo, Norway

    K. Berg

  5. Herlev Hospital, University of Copenhagen, Herlev Ringvej 75, DK 2730, Herlev, Denmark

    H. Ording & D. Bendixen

  6. Kinderklinik, Kliniken der Stadt Wuppertal, Heusnerstrasse 40, D-5600, Wuppertal, Germany

    W. Mortier

  7. Department of Human Genetics, University of Wurzburg Bioentrum, Am Hubland, D-8700, Wurzburg, Germany

    U. Linz & C. R. Muller

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Quane, K., Healy, J., Keating, K. et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 5, 51–55 (1993). https://doi.org/10.1038/ng0993-51

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  • DOI: https://doi.org/10.1038/ng0993-51

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