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Article

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

16 Jan 2019

Abstract excerpt

The ryanodine receptor 1 (RYR1) is a calcium release channel essential for excitation-contraction coupling in the sarcoplasmic reticulum of skeletal muscles. Dominant variants in the RYR1 have been well associated with the known pharmacogenetic ryanodinopathy and malignant hyperthermia. With the era of next-generation gene sequencing and growing number of causative variants, the spectrum of ryanodinopathies has...

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PMID: 30652412
DOI: 10.1002/ajmg.a.61025

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