Version 1
: Received: 20 June 2024 / Approved: 21 June 2024 / Online: 21 June 2024 (15:35:49 CEST)
How to cite:
Luzuriaga, D. E.; Abrigo Maldonado, B. R.; Villacorta, H. Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: A Series of Cases. Preprints2024, 2024061545. https://doi.org/10.20944/preprints202406.1545.v1
Luzuriaga, D. E.; Abrigo Maldonado, B. R.; Villacorta, H. Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: A Series of Cases. Preprints 2024, 2024061545. https://doi.org/10.20944/preprints202406.1545.v1
Luzuriaga, D. E.; Abrigo Maldonado, B. R.; Villacorta, H. Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: A Series of Cases. Preprints2024, 2024061545. https://doi.org/10.20944/preprints202406.1545.v1
APA Style
Luzuriaga, D. E., Abrigo Maldonado, B. R., & Villacorta, H. (2024). Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: A Series of Cases. Preprints. https://doi.org/10.20944/preprints202406.1545.v1
Chicago/Turabian Style
Luzuriaga, D. E., Borys Roberto Abrigo Maldonado and Humberto Villacorta. 2024 "Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: A Series of Cases" Preprints. https://doi.org/10.20944/preprints202406.1545.v1
Abstract
Approximately more than 120 transthyretin mutations are known whose variation in clinical presentation is heterogeneous, as the course of disease onset depends on genetic variation and level of penetrance. It is little known in Ecuador, and some of the reported cases; suggest to the family tree analysis that they come from a province that is possibly considered endemic. The main objective is to carry out a descriptive cross-sectional analysis on the presentation of transthyretin amyloidosis in families carrying the p.Ser43Asn gene from the index case identified.
Medicine and Pharmacology, Cardiac and Cardiovascular Systems
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
