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Article

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

American journal of human genetics - 1 Nov 2006

Zhou Haiyan, Brockington Martin, Jungbluth Heinz, Monk David, Stanier Philip, Sewry Caroline A, Moore Gudrun E, Muntoni Francesco

Abstract excerpt

Epigenetic regulation of gene expression is a source of genetic variation, which can mimic recessive mutations by creating transcriptional haploinsufficiency. Germline epimutations and genomic imprinting are typical examples, although their existence can be difficult to reveal. Genomic imprinting can be tissue specific, with biallelic expression in some tissues and monoallelic expression in others or with...

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Source

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Identifiers

PMID: 17033962
DOI: 10.1086/508500
PMCID: PMC1698560

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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