Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

de Frutos, Fernando; P. Ochoa, J.; Gómez-González, Cristina; Reyes-Leiva, D.; Aróstegui, J.; Casasnovas, Carles; Barriales-Villa, Roberto; Sevilla, T.; Gonzalez-Lopez, E.; Ramil, Elvira; Galán, L.; González-Costello, J.; García-Álvarez, A.; Rojas‐García, R.; A. Espinosa, M.; García-Pavía, P.

doi:10.1080/13506129.2022.2142110

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Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

Shared by NobleBlocks on Nov 7, 2022 • 12:00 AM UTC

Authors:

Fernando de Frutos

J. P. Ochoa

Cristina Gómez-González

Abstract

Abstract Background The p.Glu109Lys variant (Glu89Lys) is a rare cause of hereditary transthyretin amyloidosis (ATTRv) for which clinical spectrum remains unresolved. We sought to describe the clinical characteristics and outcomes of ATTR Glu89Lys amyloidosis and assess a potential founder effect in...

Subject

Medicine

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