Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis.

CONCLUSIONS: According to available research, this is the first time types of TTR mutations and clinical characteristics of Polish patients with cardiac hereditary ATTR have been reported. Previous literature data about Polish background in families with p.Phe53Leu mutation and the present results, suggest that this TTR mutation might be endemic in the Polish population.
PMID: 32789836 [PubMed - as supplied by publisher]

Source: Cardiology Journal - August 12, 2020 Category: Cardiology Authors: Gawor M, Holcman K, Franaszczyk M, Lipowska M, Michałek P, Teresińska A, Bilińska ZT, Rubiś P, Kostkiewicz M, Szot W, Podolec P, Grzybowski J Tags: Cardiol J Source Type: research