title: Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
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.
authors.affiliation: Servizio Malattie Neuro-Muscolari, Università di Genova, Istituto G. Gaslini, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Carbone
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: F
authors.initials: F
authors.lastname: Sotgia
authors.forename: M
authors.initials: M
authors.lastname: Bado
authors.forename: P
authors.initials: P
authors.lastname: Broda
authors.forename: E
authors.initials: E
authors.lastname: Masetti
authors.forename: A
authors.initials: A
authors.lastname: Panella
authors.forename: F
authors.initials: F
authors.lastname: Zara
authors.forename: F D
authors.initials: FD
authors.lastname: Bricarelli
authors.forename: G
authors.initials: G
authors.lastname: Cordone
authors.forename: M P
authors.initials: MP
authors.lastname: Lisanti
authors.forename: C
authors.initials: C
authors.lastname: Minetti
mesh_terms: D000595:Amino Acid Sequence; D051244:Caveolin 3; D022461:Caveolins; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood*; D006023:Glycoproteins / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency* / Q000235:genetics*; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*
chemical_list: D051244:Caveolin 3; D022461:Caveolins; D006023:Glycoproteins; D008565:Membrane Proteins; D003402:Creatine Kinase