Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca.
Eugenia CisnerosF GorramM A Ribot-SansóF AlarconG NuelJ González-MorenoA RodríguezJ Hernandez-RodriguezE Amengual-CladeraI Martínez-LópezT Ripoll-VeraI Losada-LópezD Heine-SuñerV Plante-BordeneuvePublished in: Orphanet journal of rare diseases (2023)
In this first study assessing the age-related penetrance of ATTRV30M variant in Majorcan families, no effect of gender or parent of origin was observed. These findings will be helpful for improving management and follow-up of TTR variant carrier individuals.
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