Genetic Screening for Hereditary Transthyretin Amyloidosis in the Population of Cammarata and San Giovanni Gemini Through Red Flags and Registry Archives

Genetic Screening for Hereditary Transthyretin Amyloidosis in the Population of Cammarata and San Giovanni Gemini Through Red Flags and Registry Archives

<b>Introduction</b>: Hereditary transthyretin amyloidosis (ATTRv) is a severe, multisystemic, autosomal dominant disease with variable penetrance caused by mutations in the <i>TTR</i> gene generating protein misfolding and accumulation of amyloid fibrils. The diagnosis is usu...

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Main Authors: Vincenzo Di Stefano, Christian Messina, Antonia Pignolo, Fiore Pecoraro, Ivana Cutrò, Paolo Alonge, Nicasio Rini, Umberto Quartetti, Vito Lo Bue, Eugenia Borgione, Filippo Brighina
Format: Article
Language:English
Published: MDPI AG 2025-03-01
Series:Brain Sciences
Subjects:
hereditary transthyretin amyloidosis
ATTRv-PN
TTR amyloid
genetics
screening
neuromuscular
Online Access:https://www.mdpi.com/2076-3425/15/4/365
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