Case Report: Transthyretin Glu54Leu—a rare mutation with predominant cardiac phenotype

We report two unrelated Bulgarian families with hereditary transthyretin (ATTR) amyloidosis due to a rare p.Glu74Leu (Glu54Leu) pathogenic variant found in seven individuals—three of them symptomatic. Only one family with the same variant and with a Swedish origin has been clinically described so fa...

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Detalles Bibliográficos
Autores principales: Gospodinova, Mariana, Zhelyazkova, Sashka, Chamova, Teodora, Asenov, Ognyan, Pavlova, Zornitsa, Todorov, Tihomir, Mikova, Dilyana, Palashev, Yordan, Gruev, Ivan, Kundurdjiev, Atanas, Todorova, Albena, Tournev, Ivailo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644754/
https://www.ncbi.nlm.nih.gov/pubmed/38028480
http://dx.doi.org/10.3389/fcvm.2023.1228410

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644754/
https://www.ncbi.nlm.nih.gov/pubmed/38028480
http://dx.doi.org/10.3389/fcvm.2023.1228410

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