Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage
نویسندگان
چکیده
منابع مشابه
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage
Over 1,500 gene mutations are known to cause hypertrophic cardiomyopathy (HCM). Previous studies suggest that cardiac β-myosin heavy chain (MYH7) gene mutations are commonly associated with a more severe phenotype, compared to cardiac myosin binding protein-C (MYBPC3) gene mutations with milder phenotype, incomplete penetrance and later age of onset. Compound mutations can worsen the phenotype....
متن کاملONLINE MUTATION REPORT Clinical and genetic characteristics of a cardiac actin gene mutations in hypertrophic cardiomyopathy
J Mogensen, A Perrot, P S Andersen, O Havndrup, I C Klausen, M Christiansen, P Bross, H Egeblad, H Bundgaard, K J Osterziel, G Haltern, H Lapp, P Reinecke, N Gregersen, A D Børglum . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملAutosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy
BACKGROUND Hypertrophic cardiomyopathy (HCM) due to mutations in genes encoding sarcomere proteins is most commonly inherited as an autosomal dominant trait. Since nearly 50% of HCM cases occur in the absence of a family history, a recessive inheritance pattern may be involved. METHODS A pedigree was identified with suspected autosomal recessive transmission of HCM. Twenty-six HCM-related gen...
متن کاملRight ventricular hypertrophy and scarring in mutation positive hypertrophic cardiomyopathy.
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . doi:10.1093/eurheartj/ehp528 Online publish-ahead-o...
متن کاملMutation of the phospholamban promoter associated with hypertrophic cardiomyopathy.
Phospholamban is an endogenous inhibitor of sarcoplasmic reticulum calcium ATPase and plays a prime role in cardiac contractility and relaxation. Phospholamban may be a candidate gene responsible for cardiomyopathy. We investigated genome sequence of phospholamban in patients with cardiomyopathy. PCR-based direct sequence was performed for the promoter region and the whole coding region of phos...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: PLOS ONE
سال: 2017
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0187948