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Article

Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3.

Proceedings of the National Academy of Sciences of the United States of America - 10 Jan 2017

Linsley Jeremy W, Hsu I-Uen, Groom Linda, Yarotskyy Viktor, Lavorato Manuela, Horstick Eric J, Linsley Drew, Wang Wenjia, Franzini-Armstrong Clara, Dirksen Robert T, Kuwada John Y

Abstract excerpt

Skeletal muscle contractions are initiated by an increase in Ca2+ released during excitation-contraction (EC) coupling, and defects in EC coupling are associated with human myopathies. EC coupling requires communication between voltage-sensing dihydropyridine receptors (DHPRs) in transverse tubule membrane and Ca2+ release channel ryanodine receptor 1 (RyR1) in the sarcoplasmic reticulum (SR). Stac3 protein (SH3...

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Source

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Identifiers

PMID: 28003463
DOI: 10.1073/pnas.1619238114
PMCID: PMC5240691

Genes

STAC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3.PMID 28003463Read ↗

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