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Article

Phenotypic variability in a Spanish family with a Caveolin-3 mutation.

Journal of the neurological sciences - 15 Jan 2009

González-Pérez Paloma, Gallano Pía, González-Quereda Lidia, Rivas-Infante Eloy, Teijeira Susana, Navarro Carmen, Bautista-Lorite Juan

Abstract excerpt

UNLABELLED: We report a Spanish family affected from a late onset, hand-involved and autosomal dominant distal myopathy associated to Caveolin-3 mutation. Signs of muscle hyperexcitability and hyperckemia were observed in the youngest relatives but not motor symptoms. PATIENTS AND METHODS: Neurol...

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PMID: 18930476
DOI: 10.1016/j.jns.2008.09.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18930476-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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