A novel mutation in FHL1 gene causing hypertrophic cardiomyopathy associated with myopathy


Four and a half LIM domain protein 1 (FHL1), also known as skeletal muscle LIM-protein 1 (SLIM1), is a protein mostly expressed in striated and cardiac muscle, that seems to have a role in muscle growth and differentiation, as well as in the assembly of the sarcomeric protein complex. FHL1, located on the X chromosome, is the causative gene for a wide spectrum of distinct myopathies, most of which falling within the myofibrillar myopathies family. FHL1 gene has been recently reported as a novel disease gene for isolated hypertrophic cardiomyopathy (HCM); however, little is still known about which gene variants are associated with major cardiac phenotype and/or mild muscle expression.


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