Hereditary transthyretin amyloidosis with a previously undescribed variant p.Tyr89Phe (Tyr69Phe) in the TTR gene

Aksenova YuO, Nasonova SN, Zhirov IV, et al. . Hereditary transthyretin amyloidosis with a previously undescribed variant p.Tyr89Phe (Tyr69Phe) in the TTR gene. Russian Cardiology Bulletin. 2023;18(2):80‑87. (In Russ.)
https://doi.org/10.17116/Cardiobulletin20231802180

Подписка 2025-2 (Russian Cardiology Bulletin)

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The authors present a patient with hereditary transthyretin amyloidosis associated with a nucleotide sequence in the TTR gene responsible for this disease and not previously described in the literature. Clinical manifestations of disease were compared with diagnostic data in family members.

Keywords:

amyloidosis

transthyretin

hereditary

pathogenicity

variant

gene

Authors:

Aksenova Yu.O.

Chazov National Medical Research Center of Cardiology

ORCID: 0000-0002-6546-2535

Nasonova S.N.

Chazov National Medical Research Center of Cardiology

ORCID: 0000-0002-0920-7417

Zhirov I.V.

Chazov National Medical Research Center of Cardiology

ORCID: 0000-0002-4066-2661

Ansheles A.A.

Chazov National Medical Research Center of Cardiology

ORCID: 0000-0002-2675-3276

Dobrovolskaya S.V.

Chazov National Medical Research Center of Cardiology

ORCID: 0000-0003-0580-393X

Saidova M.A.

Chazov National Medical Research Centre of Cardiology

ORCID: 0000-0002-3233-1862

Sergienko V.B.

Chazov National Medical Research Center of Cardiology

ORCID: 0000-0002-0487-6902

Tereshchenko S.N.

Chazov National Medical Research Center of Cardiology

ORCID: 0000-0001-9234-6129

Received:

05.02.2023

Accepted:

17.03.2023

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