Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase
- 28 March 2000
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 54 (6), 1373-1376
- https://doi.org/10.1212/wnl.54.6.1373
Abstract
Article abstract Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb–girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.Keywords
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