Ryanodinopathies : Muscle Disorders Linked to Mutations in Ryanodine Receptors

@inproceedings{Lueck2004RyanodinopathiesM,
  title={Ryanodinopathies : Muscle Disorders Linked to Mutations in Ryanodine Receptors},
  author={John D. Lueck and Sanjeewa A. Goonasekera and Robert T Dirksen},
  year={2004}
}
Excitation-contraction (EC) coupling in skeletal and cardiac muscle depends on bidirectional signaling interactions between sarcolemmal L-type Ca channels (or dihydropyridine receptors, DHPRs) and Ca release channels (or ryanodine receptors, RyRs) of the sarcoplasmic reticulum (SR). Mutations in the skeletal muscle RyR (RyR1) result in several clinically distinct muscle disorders including malignant hyperthermia (MH), central core disease (CCD), multi-minicore disease (MmD), and nemaline rod… CONTINUE READING

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