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Muscle Nerve. 2012 Jun;45(6):897-900. doi: 10.1002/mus.23270.

Myotonia associated with caveolin-3 mutation.

Author information

  • 1Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA. milone.margherita@mayo.edu

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.

Copyright © 2012 Wiley Periodicals, Inc.

PMID:
22581547
[PubMed - indexed for MEDLINE]
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