Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.

Dominique Paul GermainEva BrandAlessandro BurlinaFranco CecchiScott C GarmanJudy KempfDawn A LaneyAleš LinhartLászló MaródiKathy NichollsAlberto OrtizFederico PieruzziSuma P ShankarStephen WaldekChristoph WannerAna Jovanovic

Published in: Molecular genetics & genomic medicine (2018)

p.N215S is a disease-causing mutation with severe clinical manifestations found primarily in the heart. Cardiac involvement may become as severe as in classic Fabry patients, especially in males.

Keyphrases

replacement therapy
end stage renal disease
hypertrophic cardiomyopathy
newly diagnosed
chronic kidney disease
early onset
ejection fraction
heart failure
left ventricular
peritoneal dialysis
clinical trial
atrial fibrillation
cross sectional