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Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers.

Muscle & nerve - 1 Feb 2025

Berard Nicolas, Verschueren Annie, Fortanier Etienne, Grapperon Aude-Marie, Kouton Ludivine, Rebouh Hadia, Gallard Julien, Salort-Campana Emmanuelle, Attarian Shahram, Delmont Emilien

Abstract excerpt

INTRODUCTION/AIMS: It is imperative to screen asymptomatic carriers of transthyretin (TTR) mutations to initiate treatment early. The protocol for repeated electrodiagnostic (EDX) assessments over time lacks standardization. Our aim was to report the electrophysiological evolution of a cohort of asymptomatic carriers and to determine which biomarkers were most sensitive to change. METHODS: We performed a...

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PMID: 39668650
DOI: 10.1002/mus.28318

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