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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Autori principali:	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
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Taylor & Francis Group 2021-01-01
Serie:	Annals of Medicine
Soggetti:	Hereditary transthyretin-related amyloidosis polyneuropathy cardiomyopathy genetic testing
Accesso online:	https://www.tandfonline.com/doi/10.1080/07853890.2021.1988696
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