Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

Carbone, I. PhD
Bruno, C. MD
Sotgia, F. PhD
Bado, M. MD
Broda, P. BS
Masetti, E. BS
Panella, A. MD
Zara, F. PhD
Bricarelli, F. Dagna PhD
Cordone, G. MD
Lisanti, M. P. MD, PhD
Minetti, C. MD

From the Servizio Malattie Neuro-Muscolari (Drs. Carbone, Bruno, Sotgia, Bado, Panella, Cordone, and Minetti, and P. Broda and E. Masetti), Università di Genova, Istituto G. Gaslini, Italy; the Department of Molecular Pharmacology (Drs. Sotgia and Lisanti), Albert Einstein College of Medicine, Bronx, NY; and the Laboratorio di Genetica Umana (Drs. Zara and Bricarelli), E.O. Ospedali Galliera, Genova, Italy.

Received August 23, 1999.

Accepted in final form November 19, 1999.

Supported by grants from Telethon-Italia (no. 1111), and the Italian Ministry of Health (G. Gaslini Institute, Ricerca Finalizzata 98). M.P.L. was supported by an NIH grant (R01-CA-80250), and grants from the Charles E. Culpepper Foundation, the G. Harold and Leila Y. Mathers Charitable Foundation, and the Sidney Kimmel Foundation for Cancer Research.

Address correspondence and reprint requests to Dr. Carlo Minetti, Servizio Malattie Neuro-Muscolari, Dipartimento di Pediatria, Università di Genova, Istituto G. Gaslini, Largo Gaslini 5, 16147 Genova, Italy.

Neurology 54(6):p 1373-1376, March 28, 2000.

Article 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.