Article
Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.
Human molecular genetics - 15 Jul 2012
Friedrich Felix W, Wilding Brendan R, Reischmann Silke, Crocini Claudia, Lang Patrick, Charron Philippe, Müller Oliver J, McGrath Meagan J, Vollert Ingra, Hansen Arne, Linke Wolfgang A, Hengstenberg Christian, Bonne Gisèle, Morner Stellan, Wichter Thomas, Madeira Hugo, Arbustini Eloisa, Eschenhagen Thomas, Mitchell Christina A, Isnard Richard, Carrier Lucie
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is characterized by asymmetric left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. HCM is caused by mutations in sarcomeric genes, but in >40% of patients, the mutation is not yet identified. We hypothesized that FHL1, encoding four-and-a-half-LIM domains 1, could be another disease gene since it has been shown to cause distinct myopathies, sometimes...
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