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Article

Myotonia associated with caveolin-3 mutation.

Muscle & nerve - 1 Jun 2012

Milone Margherita, McEvoy Kathleen M, Sorenson Eric J, Daube Jasper R

Abstract excerpt

INTRODUCTION: Caveolin-3 is a major component of the caveolae in skeletal and cardiac muscle. Mutations in the caveolin-3 gene (CAV3) lead to a spectrum of clinical phenotypes including limb-girdle muscular dystrophy 1C, distal myopathy, rippling muscle disease, isolated hyperCKemia, and cardiomyopathy. CASE REPORT: A 24-year-old man with myalgia, muscle stiffness, and fatigue has normal strength and prominent...

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Source

Identifiers

PMID: 22581547
DOI: 10.1002/mus.23270

Genes

CAV3
CLCN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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