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

  • Neurology. 2000 Mar 28;54(6):1373-6. doi: 10.1212/wnl.54.6.1373.
I Carbone  1 ,  C Bruno ,  F Sotgia ,  M Bado ,  P Broda ,  E Masetti ,  A Panella ,  F Zara ,  F D Bricarelli ,  G Cordone ,  M P Lisanti ,  C Minetti
Affiliations
  • 1. Servizio Malattie Neuro-Muscolari, Università di Genova, Istituto G. Gaslini, Italy.
PMID: 10746614 DOI: 10.1212/wnl.54.6.1373
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.