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 delaye...

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Auteurs principaux:	Volha Skrahina, Ulrike Grittner, Christian Beetz, Thomas Skripuletz, Martin Juenemann, Heidrun H. Krämer, Katrin Hahn, Andreas Rieth, Volker Schaechinger, Monica Patten, Christian Tanislav, Stephan Achenbach, Birgit Assmus, Fabian Knebel, Stefan Gingele, Aliaksandr Skrahin, Jörg Hartkamp, Toni M. Förster, Sabine Roesner, Catarina Pereira, Arndt Rolfs
Format:	Artigo
Langue:	Inglês
Publié:	Taylor & Francis Group 2021-01-01
Collection:	Annals of Medicine
Sujets:	Hereditary transthyretin-related amyloidosis polyneuropathy cardiomyopathy genetic testing
Accès en ligne:	https://www.tandfonline.com/doi/10.1080/07853890.2021.1988696
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