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Article

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

Muscle & nerve - 1 Jul 2011

Arias Gómez Manuel, Alberte-Woodwar Miguel, Arias-Rivas Susana, Dapena Dolores, Pintos Elena, Navarro Carmen

Abstract excerpt

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...

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PMID: 21660982
DOI: 10.1002/mus.22079

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