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Article

Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.

BMC research notes - 1 Aug 2014

Cuperman Thais, Fernandes Stephanie A, Lourenço Naila C V, Yamamoto Lydia U, Silva Helga C A, Pavanello Rita C M, Yamamoto Guilherme L, Zatz Mayana, Oliveira Acary S B, Vainzof Mariz

Abstract excerpt

BACKGROUND: Central core disease is a congenital myopathy, characterized by presence of central core-like areas in muscle fibers. Patients have mild or moderate weakness, hypotonia and motor developmental delay. The disease is caused by mutations in the human ryanodine receptor gene (RYR1), which encodes a calcium-release channel. Since the RYR1 gene is huge, containing 106 exons, mutation screening has been...

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Source

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Identifiers

PMID: 25084811
DOI: 10.1186/1756-0500-7-487
PMCID: PMC4124474

Genes

RYR1

Provenance

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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