Publications by authors named "Francois Pernot"
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
Carolien H Teirlinck Faïza Senni Rajae El Malti Danielle Majoor-Krakauer Florence Fellmann François Pernot
BMC Med Genet
November 2012
Background: Hypertrophic Cardiomyopathy (HCM) is a genetically heterogeneous disease. One specific mutation in the MYBPC3 gene is highly prevalent in center east of France giving an opportunity to define the clinical profile of this specific mutation.
Methods: HCM probands were screened for mutation in the MYH7, MYBPC3, TNNT2 and TNNI3 genes.