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Article

Skeletal muscle CaV1.1 channelopathies.

Pflugers Archiv : European journal of physiology - 1 Jul 2020

Flucher Bernhard E

Abstract excerpt

CaV1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of skeletal muscle excitation-contraction (EC) coupling independently of its functions as L-type calcium channel. Consequently, all known CaV1.1-related diseases are muscle diseases and the molecular and cellular disease mechanisms relate to the dual functions of CaV1.1 in this tissue. To date, four types of muscle diseases...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Calcium Channels, L-Type
Share to Cardiomyopathy and Myosin Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Channelopathies

Share to Genetic Neurodegenerative Diseases

Share to Ion channel regulation and function

Share to Muscle, Skeletal

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Source

Open in PubMed Open full text

Identifiers

PMID: 32222817
DOI: 10.1007/s00424-020-02368-3
PMCID: PMC7351834

Genes

CACNA1S
STAC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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