Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

摘要: 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 the gene encoding and linked to several neuromuscular disorders, whose common feature appears be dysregulation of homeostasis. A decade research into functional consequences how these affect properties their impact on disease, significantly advanced our understanding Malignant Hyperthermia, Central Core Disease Multiminicore Disease. This review gives overview important findings field homeostasis describes might function this lead disorders.