Diseases associated with altered ryanodine receptor activity

WJ Durham, XHT Wehrens, S Sood… - Calcium signalling and …, 2007 - Springer
WJ Durham, XHT Wehrens, S Sood, SL Hamilton
Calcium signalling and disease: molecular pathology of calcium, 2007Springer
Mutations in two intracellular Ca 2+ 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
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
Springer