Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.

Joel Salazar-MendiguchíaJuan Pablo OchoaJulian Palomino-DozaFernando DomínguezCarles Díez-LópezMohammed AkhtarSoraya Ramiro-LeónMaría M ClementeAntonia Pérez-CejasMaría RobledoIria Gómez-DíazMaría Luisa Peña-PeñaVicente ClimentFrancisco Salmerón-MartínezCelestino HernándezPablo Elpidio García-GranjaM Victoria MogollónIvonne Cárdenas-ReyesMarcos CicerchiaDiego García-GiustinianiArsonval LamounierBelén Gil-FournierFelícitas Díaz-FloresRafael SalgueroLuis SantoméPetros SyrrisMontse OlivéPablo García-PavíaMartín Ortiz-GengaPerry Mark ElliottLorenzo Monserratnull null

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

TRIM63 appears to be an uncommon cause of HCM inherited in an autosomal-recessive manner and associated with concentric LVH and a high rate of LV dysfunction.

Keyphrases

hypertrophic cardiomyopathy
left ventricular
intellectual disability
muscular dystrophy
oxidative stress
autism spectrum disorder
duchenne muscular dystrophy