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Article

Caveolinopathy--new mutations and additional symptoms.

Neuromuscular disorders : NMD - 1 Jul 2008

Aboumousa Ahmed, Hoogendijk Jessica, Charlton Richard, Barresi Rita, Herrmann Ralf, Voit Thomas, Hudson Judith, Roberts Mark, Hilton-Jones David, Eagle Michelle, Bushby Kate, Straub Volker

Abstract excerpt

Mutations in the caveolin-3 gene (CAV3) can lead to a broad spectrum of clinical phenotypes. Phenotypes that have so far been associated with primary caveolin-3 deficiency include limb girdle muscular dystrophy, rippling muscle disease, distal myopathy and hyperCKaemia. This is the first report describing the clinical, pathological and genetic features of patients with caveolinopathy from the UK. Ten patients...

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Source

Identifiers

PMID: 18583131
DOI: 10.1016/j.nmd.2008.05.003

Genes

CAV3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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