Article
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
Neuromuscular disorders : NMD - 1 Nov 2009
Catteruccia Michela, Sanna Tommaso, Santorelli Filippo Maria, Tessa Alessandra, Di Giacopo Raffaella, Sauchelli Donato, Verbo Alessandro, Lo Monaco Mauro, Servidei Serenella
Abstract excerpt
Caveolin-3, the myocyte-specific isoform of caveolins, is preferentially expressed in skeletal, cardiac and smooth muscles. Mutations in the CAV3 gene cause clinically heterogeneous neuromuscular disorders, including rippling muscle disease, or cardiopathies. The same mutation may lead to different phenotypes, but cardiac and muscle involvement rarely coexists suggesting that the molecular network acting with...
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