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Article

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

Human mutation - 1 Jul 2013

Zhou Haiyan, Rokach Ori, Feng Lucy, Munteanu Iulia, Mamchaoui Kamel, Wilmshurst Jo M, Sewry Caroline, Manzur Adnan Y, Pillay Komala, Mouly Vincent, Duchen Michael, Jungbluth Heinz, Treves Susan, Muntoni Francesco

Abstract excerpt

In skeletal muscle, excitation-contraction (EC) coupling is the process whereby the voltage-gated dihydropyridine receptor (DHPR) located on the transverse tubules activates calcium release from the sarcoplasmic reticulum by activating ryanodine receptor (RyR1) Ca(2+) channels located on the terminal cisternae. This subcellular membrane specialization is necessary for proper intracellular signaling and any...

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Identifiers

PMID: 23553787
DOI: 10.1002/humu.22326

Genes

RYR1

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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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