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Muscle Nerve. 2011 Jul;44(1):126-8. doi: 10.1002/mus.22079. Epub 2011 Jun 9.

Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene.

Author information

  • 1Department of Neurology, Hospital Clínico Universitario de Santiago de Compostela, Travesía da Choupana s/n, Santiago de Compostela 15706, Spain. mariasg@meditex.es

Abstract

A 23-year-old man was evaluated for atrophy of the left calf. He had a myopathic pattern on electromyography. Light microscopy showed dystrophic changes and reduced immunostaining for dysferlin and caveolin-3. The subsarcolemmal space was enlarged, and abnormal vesicles were visible with electron microscopy. A genetic study showed a heterozygous A45T mutation at exon 2 of the caveolin-3 gene. Such a mutation has been reported previously with limb-girdle muscular dystrophy type 1C and rippling muscle disease phenotypes.

Copyright © 2011 Wiley Periodicals, Inc.

PMID:
21660982
[PubMed - indexed for MEDLINE]
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