Article
A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy.
The American journal of cardiology - 1 Jan 2002
Fujino Noboru, Shimizu Masami, Ino Hidekazu, Yamaguchi Masato, Yasuda Toshihiko, Nagata Mitsuru, Konno Tetsuo, Mabuchi Hiroshi
Abstract excerpt
Familial hypertrophic cardiomyopathy (HC) can be caused by mutations in 9 different genes encoding sarcomere proteins expressed in cardiac muscle. To date, only 13 different mutations in the cardiac troponin T (cTnT) gene have been reported to cause HC. Clinical characteristics and prognosis associated with mutations of this gene have not been well characterized owing to the small size and composition of affected...
Topics
- Adolescent
- Adult
- Aged
- Asian People
- Cardiomyopathy, Dilated
- Cardiomyopathy, Hypertrophic, Familial
- Child
- Child, Preschool
- Disease Progression
- Echocardiography
- Female
- Humans
- Infant