Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes [Original Articles]

Conclusions—
Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities.

Source: Circulation: Cardiovascular Genetics - August 10, 2017 Category: Cardiology Authors: Adalsteinsdottir, B., Palsson, R., Desnick, R. J., Gardarsdottir, M., Teekakirikul, P., Maron, M., Appelbaum, E., Neisius, U., Maron, B. J., Burke, M. A., Chen, B., Pagant, S., Madsen, C. V., Danielsen, R., Arngrimsson, R., Feldt-Rasmussen, U., Seidman, J Tags: Genetics, Cardiomyopathy, Hypertrophy Original Articles Source Type: research