Article
Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.
European journal of neurology - 1 Feb 2025
Dori Amir, Chorin Odelia, Ruhrman-Shahar Noa, Fellner Avi, Alon Tayir, Reznik-Wolf Haike, Barel Ortal, Fourey Dana, Zadok Osnat Itzhaki Ben, Aviv Yaron, Nikitin Vera, Ben-David Merav, Shavit-Stein Efrat, Goldis Rivka, Kaplan Batia, Shapiro Daniela, Pras Elon, Pollak Arthur, Meiner Vardiella, Arad Michael, Greenbaum Lior
Abstract excerpt
BACKGROUND: Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel. METHODS: Genetic and clinical data of...
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