A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects
Netherlands Heart Journal Sep 14, 2017
van der Linde IHM, et al. - Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects. In this current study, it was demonstrated that, clinically, the p. (Asn1918Lys) mutation was associated with congenital heart defects and/or cardiomyopathy at young age but with a relatively benign course.
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