Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina

CONCLUSION: We present the first prevalence report of TTR mutations in a reference center of amyloidosis in Argentina. The most frequent genetic variant was p.Val50Met. Our data show considerable phenotypic heterogeneity in the patients with ATTRv.PMID:34668655 | DOI:10.1002/mgg3.1812

Source: Molecular Medicine - October 20, 2021 Category: Molecular Biology Authors: Maria S Saez Maria A Aguirre Diego P érez de Arenaza Patricia Sorroche Elsa Nucifora Maria L Posadas Martinez Source Type: research