Article
Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability.
Journal of neurology - 1 Sept 2024
Carvalho Estefânia, Dias Andreia, Coelho Teresa, Sousa Alda, Alves-Ferreira Miguel, Santos Mariana, Lemos Carolina
Abstract excerpt
Hereditary transthyretin-related amyloidosis (ATTRv amyloidosis) is a rare and progressively debilitating disease characterized by the deposition of transthyretin (TTR) amyloid fibrils in various organs and tissues, most commonly in the heart and peripheral nerves. This pathological deposition can lead to significant organ dysfunction and, ultimately, organ failure. ATTRv amyloidosis exhibits a broad range of...
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