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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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. Muscle Nerve 44: 126-128, 2011.[1]

References

  1. Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene. Arias Gómez, M., Alberte-Woodwar, M., Arias-Rivas, S., Dapena, D., Pintos, E., Navarro, C. Muscle. Nerve (2011) [Pubmed]
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