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Article

A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.

Neuromuscular disorders : NMD - 1 May 2004

Alias Laura, Gallano Pía, Moreno Dolores, Pujol Ramón, Martínez-Matos Juan Antonio, Baiget Montserrat, Ferrer Isidro, Olivé Montse

Abstract excerpt

Three members of a family were known to have persistent elevated serum CK levels without muscle weakness. A muscle biopsy showed a partial reduction of caveolin-3 at the sarcolemma of muscle fibres, which was confirmed by Western blot analysis. Mutational analysis identified a novel heterozygous...

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Identifiers

PMID: 15099591
DOI: 10.1016/j.nmd.2004.01.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15099591-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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