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Neurology. 2000 Mar 28;54(6):1373-6.

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

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  • 1Servizio Malattie Neuro-Muscolari, Universit√† di Genova, Istituto G. Gaslini, Italy.


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.

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