Article
A novel mutation in the cardiac myosin-binding protein C gene is responsible for hypertrophic cardiomyopathy with severe ventricular hypertrophy and sudden death.
Clinical science (London, England : 1979) - 1 Jan 2006
Konno Tetsuo, Shimizu Masami, Ino Hidekazu, Fujino Noboru, Uchiyama Katsuharu, Mabuchi Tomohito, Sakata Kenji, Kaneda Tomoya, Fujita Takashi, Masuta Eiichi, Mabuchi Hiroshi
Abstract excerpt
It has been demonstrated previously that clinical phenotypes of HCM (hypertrophic cardiomyopathy) caused by mutations in the cardiac MyBP-C (myosin-binding protein C) gene show late onset, low penetrance and favourable clinical course. However, we have encountered severe phenotypes in several carriers of the MyBP-C gene mutations. The aim of the present study was to screen novel MyBP-C gene mutations in patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.