Article
[A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom - skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report].
Terapevticheskii arkhiv - 31 May 2023
Chumakova O S, Nasonova S N, Frolova Y V, Stepanova E A, Mershina E A, Sinitsyn V E, Zateyshchikov D A, Zhirov I V
Abstract excerpt
Transthyretin amyloidosis (ATTR-amyloidosis) is a systemic disorder associated with extracellular deposition in the tissues and organs of amyloid fibrils, transthyretin-containing insoluble protein-polysaccharide complexes. The change in transthyretin conformation, leading to its destabilization and amyloidogenicity, can be acquired (wild type, ATTRwt) and hereditary due to mutations in the TTR gene (variant,...
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