Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene.

Kati ValtolaJuanita Nino-QuinteroMarja HedmanLine Lottonen-RaikaslehtoTomi LaitinenMaleeha MariaIlkka KantolaAnita NaukkarinenMarkku LaaksoJohanna Kuusisto

Published in: Heart (British Cardiac Society) (2020)

A143T/GLA is likely a late-onset Fabry cardiomyopathy causing variant with incomplete penetrance.

Keyphrases

late onset
early onset
heart failure
copy number
genome wide
replacement therapy
hypertrophic cardiomyopathy
gene expression
atrial fibrillation
left ventricular