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Article

Review of RyR1 pathway and associated pathomechanisms

17 Nov 2016

Abstract excerpt

Ryanodine receptor isoform-1 (RyR1) is a major calcium channel in skeletal muscle important for excitation-contraction coupling. Mutations in the RYR1 gene yield RyR1 protein dysfunction that manifests clinically as RYR1-related congenital myopathies (RYR1-RM) and/or malignant hyperthermia susceptibility (MHS). Individuals with RYR1-RM and/or MHS exhibit varying symptoms and severity. The symptoms impair quality...

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PMID: 27855725
DOI: 10.1186/s40478-016-0392-6

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