Article
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.
Nature genetics - 1 Apr 1998
Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati M A, Volonte D, Galbiati F, Cordone G, Bricarelli F D, Lisanti M P, Zara F
Abstract excerpt
Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies, including autosomal dominant and recessive forms. To date, two autosomal dominant forms have been recognized: LGMD1A, linked to chromosome 5q, and LGMD1B, associated with cardiac defects and linked to chromosome 1q11-21. Here we describe eight patients from two different families with a new form of autosomal...
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