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

Mutations in the caveolin-3 (CAV3) gene are associated with autosomal domin ant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel spo radic mutation in the CAV3 gene in two unrelated children with persistent e levated levels of serum creatine kinase (hyperCKemia) without muscle weakne ss. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indica te that a partial caveolin-3 deficiency should be considered in the differe ntial diagnosis of idiopathic hyperCKemia.