Article
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.
Neuromuscular disorders : NMD - 1 Oct 2005
Treves Susan, Anderson Ayuk A, Ducreux Sylvie, Divet Alexandra, Bleunven Christophe, Grasso Cristiano, Paesante Silvia, Zorzato Francesco
Abstract excerpt
The skeletal muscle ryanodine receptor is an intracellular calcium release channel which plays a central role in excitation contraction coupling. At least 80 mutations have been identified in the gene encoding the skeletal muscle ryanodine receptor and linked to several neuromuscular disorders, whose common feature appears to be a dysregulation of calcium homeostasis. A decade of research into the functional...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.