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.
Wessels
Marja W
MW
Department of Clinical Genetics, Erasmus Medical Center, Dr. Molewaterplein 50, 3015 GE, Rotterdam, the Netherlands. m.w.wessels@erasmusmc.nl
Willems
Patrick J
PJ
D009202:Cardiomyopathies / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation
D009124:Muscle Proteins