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A new ATTR Phe64Ile mutation with late-onset multiorgan involvement
- Article from:
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Amyloid
- Article date:
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December 1, 2007
- Author:
- Tarquini, Roberto; Perfetto, Federico; Bergesio, Franco; Miliani, Anna; Pace, Stefano Del; Frusconi, Sabrina; Minuti, Barbara; Pelo, Elisabetta; Torricelli, Francesca
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Copyright informationCopyright Taylor & Francis Ltd. Dec 2007. Provided by ProQuest LLC. (Hide copyright information)
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Keywords: Amyloidosis, transthyretin, cardiomyopathy, polyneuropathy
Abbreviations: TTR= transthyretin; FAP=familial amyloid polyneuropathy; NYHA = New York Heart Association; NT-proBNP= N-terminal pro-brain natriuretic peptide; LVEF=left ventricular ejection fraction; IVRT=isovolumetric relaxation time
Abstract
We describe a novel transthyretin mutation in which phenylalanine is replaced with isoleucine in exon 3 at codon 64: Phe64Ile. The mutation was found in an isolated patient and it was not possible to perform a family study. The phenotype included heart and peripheral nerve involvement associated with a possible gastrointestinal and renal involvement.
Introduction
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