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Article

CAV3 gene sequence variations: National Genome Database and clinics.

Acta neurologica Scandinavica - 1 Sept 2015

Stavusis J, Inashkina I, Jankevics E, Radovica I, Micule I, Strautmanis J, Naudina M S, Utkus A, Burnyte B, Lace B

Abstract excerpt

INTRODUCTION: Caveolinopathies are a group of untreatable, degenerative muscle diseases associated with caveolin 3 (CAV3) gene mutations. OBJECTIVES: The goal of this study was to characterize the role of the CAV3 gene in patients with limb-girdle muscular dystrophy, hyperCKemia, cardiomyopathies, as well as utilization of the National Genome Database in clinical applications. MATERIALS AND METHODS: We sequenced...

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Source

Identifiers

PMID: 25630502
DOI: 10.1111/ane.12369

Genes

CAV3

Variants

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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