2020-08-302020-08-302019Salihoglu, A., Yildirim, S., Ar, M. C., Hancer, V. S., Bozcan, S., Yilmaz, U., ... & Celik, A. F. (2019). Case report of a young patient with transthyretin amyloidosis associated with Gly67Ala mutation. Amyloid, 26(sup1), 75-76.1350-61291744-2818https://doi.org/10.1080/13506129.2019.1583194https://hdl.handle.net/20.500.12713/64516th International Symposium on Amyloidosis (ISA) -- MAR 26-29, 2018 -- Kumamoto, JAPANHereditary transthyretin-mediated amyloidosis (hATTR) is a rare, systemic and progressive autosomal dominant disease caused by mutations in the TTR gene. Systemic deposition of amyloidogenic mutant transthyretin results in organ dysfunction [1]. While the Val30Met has been considered to be the most common mutation there have been more than 120 amyloidogenic TTR mutations reported worldwide [2]. Phenotypic expression of hATTR is heterogeneous and influenced by TTR genotype, geographic location and other genetic and environmental factors [3]. The heterogeneity of this rare disease makes its diagnosis challenging.eninfo:eu-repo/semantics/closedAccessConference Object26757631343303WOS:0004777757000422-s2.0-85069749415Q110.1080/13506129.2019.1583194Q1