Article
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
Neurology - 28 Mar 2000
Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F, Bricarelli F D, Cordone G, Lisanti M P, Minetti C
Abstract excerpt
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...
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