title: Diseases associated with altered ryanodine receptor activity.
abstract: Mutations in two intracellular Ca2+ release channels or ryanodine receptors (RyR1 and RyR2) are associated with a number of human skeletal and cardiac diseases. This chapter discusses these diseases in terms of known mechanisms, controversies, and unanswered questions. We also compare the cardiac and skeletal muscle diseases to explore common mechanisms.
authors.affiliation: Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: W J
authors.initials: WJ
authors.lastname: Durham
authors.forename: X H T
authors.initials: XH
authors.lastname: Wehrens
authors.forename: S
authors.initials: S
authors.lastname: Sood
authors.forename: S L
authors.initials: SL
authors.lastname: Hamilton
mesh_terms: D001145:Arrhythmias, Cardiac / Q000503:physiopathology*; D002118:Calcium / Q000502:physiology*; D009202:Cardiomyopathies / Q000503:physiopathology; D003925:Diabetic Angiopathies / Q000503:physiopathology; D006333:Heart Failure / Q000503:physiopathology; D018883:Heat Stroke / Q000503:physiopathology*; D006706:Homeostasis / Q000502:physiology; D006801:Humans; D008305:Malignant Hyperthermia / Q000503:physiopathology*; D054792:Muscle, Striated / Q000502:physiology; D009154:Mutation; D020512:Myopathy, Central Core / Q000503:physiopathology; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics* / Q000502:physiology*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D002118:Calcium