Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Author:

Minetti Carlo,Sotgia Federica,Bruno Claudio,Scartezzini Paolo,Broda Paolo,Bado Massimo,Masetti Emiliana,Mazzocco Michela,Egeo Aliana,Donati Maria Alice,Volonté Daniela,Galbiati Ferruccio,Cordone Giuseppe,Bricarelli Franca Dagna,Lisanti Michael P.,Zara Federico

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference30 articles.

1. Bushby, K. Towards the classification of the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul. Disord. 6, 439–441 (1996).

2. Speer, M.C. et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am. J. Hum. Genet. 50, 1211–1217 (1992).

3. Van der Kooi, A.J. et al. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD 1B) to chromosome 1q11–21. Am. J. Hum. Genet. 60, 891–895 (1997).

4. Way, M. & Parton, R.G., caveolin, M.-, a muscle-specific caveolin-related protein. FEBS Lett. 376, 108–112 (1995).

5. Tang, Z. et al. Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle. J. Biol. Chem. 271, 2255–2261 (1996).

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