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Article

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

Muscle & nerve - 1 Jul 2011

Duarte Sofia T, Oliveira Jorge, Santos Rośrio, Pereira Pedro, Barroso Cândida, Conceição Isabel, Evangelista Teresinha

Abstract excerpt

INTRODUCTION: Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH). METHODS: Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations. Published cases of CCD and MmD...

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Source

Identifiers

PMID: 21674524
DOI: 10.1002/mus.22009

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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