Article
Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.
Acta cardiologica - 1 Feb 2012
Curila Karol, Benesova Lucie, Penicka Martin, Minarik Marek, Zemanek David, Veselka Josef, Widimsky Petr, Gregor Pavel
Abstract excerpt
INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is a cardiovascular disease with autosomal dominant inheritance. It is caused by mutations in the genes coding for structural and/or regulatory proteins found in the sarcomere of cardiomyocytes. A group of genes, including the heavy chain of beta-myosin (MYH7), myosin binding protein C (MYBPC3), cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) are...
Topics
- Adult
- Aged
- Cardiomyopathy, Hypertrophic
- Humans
- Middle Aged
- Mutation
