… genetic mutations of MYH7, a beta-myosin heavy chain gene … a myocardial protein important
for sarcomere function. This is … involving exons 18-22 of MYH7. This deletion is currently …

… in sarcomeric genes MYH7 and TPM1, the genetic etiology … of at least nine distinct MYH7
mutations with EA/LVNC [87]. Five … from MYH7 mutations or possibly other sarcomeric variants …

… Mutations in genes encoding sarcomeric proteins such as β‐myosin heavy chain (MYH7),
cardiac … MYH7 mutation can be observed sporadically or in families. In familial form, there is …

… MYH7 protein domains and location of described mutations … Electron microscopy revealed
acceptable sarcomeric … with only echocardiographic evidence of Ebstein anomaly and NCCM. …

… In this study, we focussed on two sarcomeric genes (MYH7, MYBPC3) commonly involved
… displaying a phenotype of LVNC with Ebstein anomaly (detailed clinical data not available). …

… Ebstein's anomaly (EA) is a rare congenital heart disease of … sarcomeric genes including
myosin heavy chain 7 (MYH7) (… occurring in patients harboring mutations in genes encoding α-…

… Although variants in the genes encoding MYH7 and TPM1 60 … expression 500 of sarcomeric
genes, (D) MYH6 and (E) MYH7 (n … with Ebstein's anomaly]. Arkh Patol 77: 3-8, 2015. 554 6. …

… Our results revealed that sarcomere gene variants were predominantly identified and MYH7
… sequencing panels are useful tools for analyzing specific mutations, however, typically, …

… Accessory AV connections may be present in patients with Ebstein anomaly. Multiple
accessory pathways are often found in other conditions like heterotaxy syndromes, CC-TGA, …

… in laminin subunit 3α resulting in Ebstein's anomaly … , although several genes (eg,
NKX2-5, MYH7, TPM1, and … is crucial for forming the cardiac sarcomere.Dysregulation of the …