Mutations in the Skeletal Muscle Ryanodine Receptor (RYR1) Gene are Linked to Malignant Hyperthermia and Central-Core Disease

  • David H. MacLennan


Skeletal muscle contraction and relaxation are controlled by Ca2+ concentrations within muscle cells [1]. Intracellular Ca2+ concentrations are, in turn, controlled by the sarcoplasmic reticulum. The sarcoplasmic reticulum surrounds each muscle fibril like a water jacket. It is subdivided into functional components: the longitudinal sarcoplasmic reticulum and the terminal cisternae, which itself is divided into junctional and nonjunctional terminal cisternae [2]. The longitudinal sarcoplasmic reticulum and the nonjunctional terminal cisternae have, as their major function, the uptake of Ca2+ through the activity of the Ca2+ pump.


Sarcoplasmic Reticulum Ryanodine Receptor Malignant Hyperthermia Malignant Hyperthermia Malignant Hyperthermia Susceptibility 
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Copyright information

© Springer-Verlag Tokyo 1996

Authors and Affiliations

  • David H. MacLennan
    • 1
  1. 1.Banting and Best Department of Medical ResearchUniversity of Toronto, Charles H. Best InstituteTorontoCanada

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