The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"
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DOI: 10.1007/s10974-021-09601-1
Abstract: Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young… read more here.
Keywords: mutation filamin; ala2430val mutation; cardiomyopathy; mutation ... See more keywords