Corpus ID: 6185759

Ryanodinopathies : Muscle Disorders Linked to Mutations in Ryanodine Receptors

  title={Ryanodinopathies : Muscle Disorders Linked to Mutations in Ryanodine Receptors},
  author={J. Lueck and Sanjeewa A. Goonasekera and R. Dirksen},
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
4 Citations
Review of RyR1 pathway and associated pathomechanisms
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Malignant hyperthermia: clinical and molecular aspects.
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Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?
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Excitation–contraction uncoupling by a human central core disease mutation in the ryanodine receptor
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Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
  • 753
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Ryanodine receptor mutations in malignant hyperthermia and central core disease
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FKBP12.6 Deficiency and Defective Calcium Release Channel (Ryanodine Receptor) Function Linked to Exercise-Induced Sudden Cardiac Death
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Differential distribution of ryanodine receptor type 3 (RyR3) gene product in mammalian skeletal muscles.
  • 114
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The cardiac ryanodine receptor (calcium release channel): emerging role in heart failure and arrhythmia pathogenesis.
  • 58
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Mutations of the Cardiac Ryanodine Receptor (RyR2) Gene in Familial Polymorphic Ventricular Tachycardia
  • 483
  • Highly Influential
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Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects.
  • 267