Ryanodine receptors and their role in genetic diseases (review).

doi:10.3892/ijmm.2.3.293

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Article

Ryanodine receptors and their role in genetic diseases (review).

International journal of molecular medicine - 1 Sept 1998

Leeb T, Brenig B

Abstract excerpt

The skeletal muscle ryanodine receptor (RYR1) is a calcium release channel that mediates efflux of calcium ions from the sarcoplasmic reticulum into the myoplasm during excitation-contraction coupling. Mutations in the RYR1 gene have been detected in about 50% of the patients suffering from malig...

Topics

Alternative Splicing
Animals
Brain
Calcium Signaling
Genetic Diseases, Inborn
Humans
Ion Channel Gating
Malignant Hyperthermia
Mutation
Ryanodine Receptor Calcium Release Channel
Swine

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