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Hereditary transthyretin amyloidosis caused by the rare Phe33Leu mutation

Hereditary transthyretin amyloidosis is a rare progressive systemic disease. We describe a physically active 46-year-old man who presented with dyspnoea on exertion. An echocardiogram showed increased left ventricular wall thickness and diastolic dysfunction, but normal systolic function. The QRS vo...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Björkenheim, Anna, Szabó, Barna, Sztaniszláv, Áron József
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7021114/
https://ncbi.nlm.nih.gov/pubmed/31932463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-232756
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