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

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

    Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F, Bricarelli FD, Cordone G, Lisanti MP, Minetti C.

    Source

    Servizio Malattie Neuro-Muscolari, Università di Genova, Istituto G. Gaslini, Italy.

    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.

    PMID:
    10746614
    [PubMed - indexed for MEDLINE]

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