Article
Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.
Journal of molecular and cellular cardiology - 1 Jun 2003
Waldmüller Stephan, Sakthivel Sadayappan, Saadi Abdul Vahab, Selignow Carmen, Rakesh Pareppally Gopal, Golubenko Maria, Joseph Pulavelli Kurian, Padmakumar Ramachandran, Richard Pascale, Schwartz Ketty, Tharakan Jagan Mohan, Rajamanickam Chellam, Vosberg Hans Peter
Abstract excerpt
Mutations causing familial hypertrophic cardiomyopathy (HCM) have been described in at least 11 genes encoding cardiac sarcomeric proteins. In this study, three previously unknown deletions have been identified in the human cardiac genes coding for beta-myosin heavy chain (MYH7 on chromosome 14) and myosin-binding protein-C (MYBPC3 on chromosome 11). In family MM, a 3-bp deletion in MYH7 was detected to be...
Topics
- Adolescent
- Adult
- Animals
- Cardiomyopathy, Hypertrophic, Familial
- Carrier Proteins
- Child
- DNA Mutational Analysis
- Echocardiography
- Exons