Article
A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding.
Biochimica et biophysica acta - 1 Apr 2013
van de Meerakker Judith B A, Christiaans Imke, Barnett Phil, Lekanne Deprez Ronald H, Ilgun Aho, Mook Olaf R F, Mannens Marcel M A M, Lam Jan, Wilde Arthur A M, Moorman Antoon F M, Postma Alex V
Abstract excerpt
BACKGROUND: Dilated cardiomyopathy (DCM) is characterized by idiopathic dilatation and systolic contractile dysfunction of the ventricle(s) leading to an impaired systolic function. The origin of DCM is heterogeneous, but genetic transmission of the disease accounts for up to 50% of the cases. Mutations in alpha-tropomyosin (TPM1), a thin filament protein involved in structural and regulatory roles in muscle...
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