A Case of Congenital Fiber-Type Disproportion Syndrome Presenting Dilated Cardiomyopathy With ACTA1 Mutation

Scientists performed exome sequencing and analyzed the effect of Met327Lys mutations on cultured C2C12 muscle cells compared with that seen in the wild type (ACTA1) and previously identified Asp294Val mutations associated with a severe phenotype of congenital fiber-type disproportion without cardiomyopathy.