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Article

Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility.

British journal of anaesthesia - 1 Aug 2009

Robinson R L, Carpenter D, Halsall P J, Iles D E, Booms P, Steele D, Hopkins P M, Shaw M-A

Abstract excerpt

BACKGROUND: Tissue-specific monoallelic silencing of the RYR1 gene has been proposed as an explanation for variable penetrance of dominant RYR1 mutations in malignant hyperthermia (MH). We examined the hypothesis that monoallelic silencing could explain the inheritance of an MH discordant phenotype in some instances. METHODS: We analysed parent-offspring transmission data from MH kindreds to assess whether there...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19454545
DOI: 10.1093/bja/aep108

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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