Article
Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.
Annals of medicine - 1 Feb 2013
Jääskeläinen Pertti, Heliö Tiina, Aalto-Setälä Katriina, Kaartinen Maija, Ilveskoski Erkki, Hämäläinen Liisa, Melin John, Nieminen Markku S, Laakso Markku, Kuusisto Johanna, Kervinen Helena, Mustonen Juha, Juvonen Jukka, Niemi Mari, Uusimaa Paavo, Huttunen Matti, Kotila Matti, Pietilä Mikko
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is predominantly caused by a large number of various mutations in the genes encoding sarcomeric proteins. However, two prevalent founder mutations for HCM in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes have previously been identified in eastern Finland. OBJECTIVE: To assess the prevalence of these founder mutations in a large...
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