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Article

CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.

Muscle & nerve - 1 Nov 2006

Reijneveld Jaap C, Ginjaar Ieke B, Frankhuizen Wendy S, Notermans Nicolette C

Abstract excerpt

As caveolin-3 deficiencies may explain persistent hyper-CK-emia, we performed CAV3 gene mutation analysis and immunohistochemistry for caveolin-3 in 31 patients with idiopathic hyper-CK-emia. In 2 of 29 patients who donated blood, variants in the CAV3 gene were detected. Although immunohistochemi...

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Source

Identifiers

PMID: 16770780
DOI: 10.1002/mus.20593

Genes

CAV3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16770780-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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