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Article

Characterization of recessive RYR1 mutations in core myopathies.

Human molecular genetics - 15 Sept 2006

Zhou Haiyan, Yamaguchi Naohiro, Xu Le, Wang Ying, Sewry Caroline, Jungbluth Heinz, Zorzato Francesco, Bertini Enrico, Muntoni Francesco, Meissner Gerhard, Treves Susan

Abstract excerpt

We have characterized at the molecular level, three families with core myopathies carrying apparent recessive mutations in their RYR1 gene and studied the pharmacological properties of myotubes carrying endogenous mutations as well as the properties of mutant channels expressed in HEK293 cells. T...

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Share to Calcium
Share to Genes, Recessive
Share to In Vitro Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Potentials

Share to MyoD Protein

Share to Myopathy, Central Core

Share to Ryanodine Receptor Calcium Release Channel

Share to Transduction, Genetic

Source

Identifiers

PMID: 16940308
DOI: 10.1093/hmg/ddl221

Genes

RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16940308-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Characterization of recessive RYR1 mutations in core myopathies.PMID 16940308Read ↗

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