Myotonia associated with caveolin-3 mutation

Margherita Milone, Kathleen M. Mcevoy, Eric James Sorenson, Jasper R. Daube

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

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 myotonic discharges in the gastrocnemius. He also has epilepsy. He harbors a heterozygous CAV3 mutation, p.V57M. He has no mutations in CLCN1 and SCN4A, and he had normal genetic testing for myotonic dystrophy type 1 and type 2. Conclusions: Mutations in CAV3, and in particular p.V57M in CAV3, previously reported in isolated familial hyperCKemia, can be associated with electrical myotonia.

Original languageEnglish (US)
Pages (from-to)897-900
Number of pages4
JournalMuscle and Nerve
Volume45
Issue number6
DOIs
StatePublished - Jun 2012

    Fingerprint

Keywords

  • CAV3
  • Caveolin
  • Hyper-CKemia
  • Muscle irritability
  • Myotonia

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology

Cite this