Article
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.
BMC medical genetics - 10 Nov 2012
Teirlinck Carolien H, Senni Faïza, Malti Rajae El, Majoor-Krakauer Danielle, Fellmann Florence, Millat Gilles, André-Fouët Xavier, Pernot François, Stumpf Michaël, Boutarin Jean, Bouvagnet Patrice
Abstract excerpt
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. Carriers of the MYBPC3 IVS20-2A>G mutation were genotyped with 8...
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