Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

BACKGROUND: Hereditary Transthyretin-Related Amyloidosis, a clinically heterogeneous autosomal dominant disease caused by pathogenic variants in the TTR gene, is characterized by the deposition of insoluble misfolded protein fibrils. The diagnosis, especially in non-endemic areas, is typically delay...

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Detalles Bibliográficos
Autores principales: Skrahina, Volha, Grittner, Ulrike, Beetz, Christian, Skripuletz, Thomas, Juenemann, Martin, Krämer, Heidrun H., Hahn, Katrin, Rieth, Andreas, Schaechinger, Volker, Patten, Monica, Tanislav, Christian, Achenbach, Stephan, Assmus, Birgit, Knebel, Fabian, Gingele, Stefan, Skrahin, Aliaksandr, Hartkamp, Jörg, Förster, Toni M., Roesner, Sabine, Pereira, Catarina, Rolfs, Arndt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2021
Materias:
Medical Genetics & Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8525987/
https://www.ncbi.nlm.nih.gov/pubmed/34658264
http://dx.doi.org/10.1080/07853890.2021.1988696

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