Article
Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.
Human molecular genetics - 15 Oct 2010
Granados-Riveron Javier T, Ghosh Tushar K, Pope Mark, Bu'Lock Frances, Thornborough Christopher, Eason Jacqueline, Kirk Edwin P, Fatkin Diane, Feneley Michael P, Harvey Richard P, Armour John A L, David Brook J
Abstract excerpt
Congenital heart defects (CHD) are collectively the most common form of congenital malformation. Studies of human cases and animal models have revealed that mutations in several genes are responsible for both familial and sporadic forms of CHD. We have previously shown that a mutation in MYH6 can cause an autosomal dominant form of atrial septal defect (ASD), whereas others have identified mutations of the same...
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