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

Fernando de Frutos, Juan Pablo Ochoa, Cristina Gómez-González, David Reyes-Leiva, Juan I. Aróstegui, Carlos Casasnovas, Roberto Barriales-Villa, Teresa Sevilla, Esther Gonzalez-Lopez, Elvira Ramil, Lucia Galan, Jose González-Costello, Ana García-Álvarez, Ricard Rojas-Garcia, Maria Angeles Espinosa & Pablo Garcia-Pavia
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 Spain. Patients with the p.Glu109Lys ATTRv variant from 14 families were recruited at 7 centres. Demographics, complementary tests and clinical course were analysed. Haplotype analysis was performed in 7 unrelated individuals. Thirty-eight individuals (13 probands, mean...
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