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Article

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Dec 2020

Galleni Leão Leonardo, Santos Souza Lucas, Nogueira Letícia, Pavanello Rita de Cássia Mingroni, Gurgel-Giannetti Juliana, Reed Umbertina C, Oliveira Acary S B, Cuperman Thais, Cotta Ana, FPaim Julia, Zatz Mayana, Vainzof Mariz

Abstract excerpt

Central Core Disease (CCD) is an inherited neuromuscular disorder characterized by the presence of cores in muscle biopsy. CCD is caused by mutations in the RYR1 gene. This gene encodes the ryanodine receptor 1, which is an intracellular calcium release channel from the sarcoplasmic reticulum to the cytosol in response to depolarization of the plasma membrane. Mutations in this gene are also associated with...

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Identifiers

PMID: 33458582
DOI: 10.36185/2532-1900-030
PMCID: PMC7783440

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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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