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

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