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Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
Mutations in different genes encoding sarcomeric proteins are responsible for 50-60% of familial cases of hypertrophic cardiomyopathy (HCM); however, the genetic alterations causing the disease in one-third of patients are currently unknown. Here we describe a case with familial HCM of unknown cause. Whole-exome sequencing reveals a variant in the gene encoding the sarcomeric protein filamin C (p.A1539T) that segregates with the disease in this family. Sequencing of 92 HCM cases identifiesdoi:10.1038/ncomms6326 pmid:25351925 fatcat:os5c7nfi6bcy3lqmrdq7l6qwci