Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.

Clin Genet

Department of Clinical Genetics, Erasmus Medical Center, Dr. Molewaterplein 50, 3015 GE, Rotterdam, the Netherlands.

Published: July 2008

Noncompaction of the ventricular myocardium is associated with de novo mutation in the beta-myosin heavy chain gene Budde et al. (2007) PLoS ONE 2: e1362 Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy Xin et al. (2007) Am J Med Genet 143: 2662-2667 Alpha-cardiac actin mutations produce atrial septal defects Matsson et al. (2008) Hum Mol Genet 17: 256-265.

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http://dx.doi.org/10.1111/j.1399-0004.2008.00985.xDOI Listing

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