A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects
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منابع مشابه
A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects
BACKGROUND Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects. METHODS In this study, we describe a mutation in the MYH7 gene, c. 5754C > G; p. (Asn1918Lys), present in 15 probands and 65 family members. RESULTS Of the 80 carriers (age range 0-88 years), 46 (57.5%) had cardiomyopathy (mainly dilate...
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In this issue of the Netherlands Heart Journal, van der Linde et al. describe a novel Dutch founder mutation (MYH7p.Asn1918Lys) in MYH7, the gene encoding myosin heavy chain 7, leading to cardiomyopathy and congenital heart defects [1]. Van der Linde et al. showed that the MYH7p.Asn1918Lys mutation resulted in predominantly dilated cardiomyopathy (DCM) but was also present in patients suffering...
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ژورنال
عنوان ژورنال: Netherlands Heart Journal
سال: 2017
ISSN: 1568-5888,1876-6250
DOI: 10.1007/s12471-017-1037-5