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Article

Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.

Journal of neuromuscular diseases - 1 Jan 2000

Parker Remai, Schiemann Anja H, Langton Elaine, Bulger Terasa, Pollock Neil, Bjorksten Andrew, Gillies Robyn, Hutchinson David, Roxburgh Richard, Stowell Kathryn M

Abstract excerpt

BACKGROUND: Central core disease and malignant hyperthermia are human disorders of skeletal muscle resulting from aberrant Ca2+ handling. Most malignant hyperthermia and central core disease cases are associated with amino acid changes in the type 1 ryanodine receptor (RyR1), the skeletal muscle Ca2+-release channel. Malignant hyperthermia exhibits a gain-of-function phenotype, and central core disease results...

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Identifiers

PMID: 28527222
DOI: 10.3233/JND-170210
PMCID: PMC5467713

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.PMID 28527222Read ↗

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Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region.Semantic proximity Read ↗

Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA.Semantic proximity Read ↗

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