Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.

Daniel Peter Sayer OsbornLeila EmrahiJoshua ClaytonMehrnoush Toufan TabriziAlex Yui Bong WanReza MaroofianMohammad YazdchiMichael Leon Enrique GarciaHamid GalehdariCamila HesseGholamreza ShariatiNeda MazaheriAlireza SedaghatHayley GoulléeNigel LaingYalda JamshidiHoma Tajsharghi

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Our data demonstrate that homozygous MYL3 loss-of-function variants can cause of recessive cardiomyopathy and occurrence of sudden cardiac death, most likely due to impaired or loss of myosin essential light chain function.

Keyphrases

copy number
heart failure
intellectual disability
risk assessment
muscular dystrophy
electronic health record