Key result
A novel sporadic mutation in the CAV3 gene caused partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase without muscle weakness in two unrelated children.
Case Report (n=2)
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Partial caveolin-3 deficiency due to CAV3 mutations should be considered in the differential diagnosis of idiopathic hyperCKemia.
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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Carbone et al. (2000) conducted a case report in Persistent elevated levels of serum creatine kinase (hyperCKemia) (n=2). CAV3 gene mutation was evaluated on Caveolin-3 expression in muscle fibers. A novel sporadic mutation in the CAV3 gene caused partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase without muscle weakness in two unrelated children.
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