Article
Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature review.
Molecular genetics & genomic medicine - 1 Dec 2021
Papathanasiou Maria, Carpinteiro Alexander, Kersting David, Jakstaite Aiste-Monika, Hagenacker Tim, Schlosser Thomas-Wilfried, Rischpler Christoph, Rassaf Tienush, Luedike Peter
Abstract excerpt
BACKGROUND: p.Ser43Asn is a very rare transthyretin (TTR) mutation leading to familial amyloidosis of transthyretin type, ATTR amyloidosis. It was previously observed in four patients worldwide and is associated almost invariably with an isolated cardiac phenotype. METHODS AND RESULTS: We report here on an Italian family with early-onset cardiomyopathy and aggressive disease course in the affected individuals...
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