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Article

Caveolinopathies: from the biology of caveolin-3 to human diseases.

European journal of human genetics : EJHG - 1 Feb 2010

Gazzerro Elisabetta, Sotgia Federica, Bruno Claudio, Lisanti Michael P, Minetti Carlo

Abstract excerpt

In muscle tissue the protein caveolin-3 forms caveolae--flask-shaped invaginations localized on the cytoplasmic surface of the sarcolemmal membrane. Caveolae have a key role in the maintenance of plasma membrane integrity and in the processes of vesicular trafficking and signal transduction. Mutations in the caveolin-3 gene lead to skeletal muscle pathology through multiple pathogenetic mechanisms. Indeed,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Distal Myopathies

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Share to Muscular Dystrophies, Limb-Girdle

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Source

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Identifiers

PMID: 19584897
DOI: 10.1038/ejhg.2009.103
PMCID: PMC2987183

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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