Article
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.
Neurology - 24 Feb 2004
Woodman S E, Sotgia F, Galbiati F, Minetti C, Lisanti M P
Abstract excerpt
The caveolin-3 protein is expressed exclusively in muscle cells. Caveolin-3 expression is sufficient to form caveolae-sarcolemmal invaginations that are 50 to 100 nm in diameter. Monomers of caveolin-3 oligomerize to form high molecular mass scaffolding on the cytoplasmic surface of the sarcolemmal membrane. A mutation in one caveolin-3 allele produces an aberrant protein product capable of sequestering the...
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