Article
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
Nature genetics - 1 Feb 2002
Gerull Brenda, Gramlich Michael, Atherton John, McNabb Mark, Trombitás Karoly, Sasse-Klaassen Sabine, Seidman J G, Seidman Christine, Granzier Henk, Labeit Siegfried, Frenneaux Michael, Thierfelder Ludwig
Abstract excerpt
Congestive heart failure (CHF) can result from various disease states with inadequate cardiac output. CHF due to dilated cardiomyopathy (DCM) is a familial disease in 20-30% of cases and is associated with mutations in genes encoding cytoskeletal, contractile or inner-nuclear membrane proteins. We show that mutations in the gene encoding giant-muscle filament titin (TTN) cause autosomal dominant DCM linked to...
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