Diseases associated with altered ryanodine receptor activity.

W J Durham, X H T Wehrens, S Sood, S L Hamilton

Journal: Sub-cellular biochemistry 2008;45():273-321

PMID: 18193641

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.

Address: Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.

DOI: 10.1007/978-1-4020-6191-2_10

Link outs

Free resources

Medical:

https://medlineplus.gov/arrhythmia.html

Miscellaneous:

https://assays.cancer.gov/CPTAC-177

MeSH Terms: Arrhythmias, Cardiac, Calcium, Cardiomyopathies, Diabetic Angiopathies, Heart Failure, Heat Stroke, Homeostasis, Humans, Malignant Hyperthermia, Muscle, Striated, Mutation, Myopathy, Central Core, Ryanodine Receptor Calcium Release Channel