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Article

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.

Current opinion in pharmacology - 1 Jun 2008

Treves Susan, Jungbluth Heinz, Muntoni Francesco, Zorzato Francesco

Abstract excerpt

Dysregulation of calcium signals because of defects of the skeletal muscle sarcoplasmic reticulum calcium release channel (ryanodine receptor; RyR1) is causative of several congenital muscle disorders including malignant hyperthermia (MH; MIM #145600), central core disease (CCD; MIM #11700), specific forms of multi-minicore disease (MmD; MIM # 255320) and centronuclear myopathy (CNM). Experimental data have shown...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Myopathies, Structural, Congenital

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Source

Identifiers

PMID: 18313359
DOI: 10.1016/j.coph.2008.01.005

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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