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Case Reports
. 2007 Dec;14(4):289-92.
doi: 10.1080/13506120701614172.

A new ATTR Phe64Ile mutation with late-onset multiorgan involvement

Roberto Tarquini  1 , Federico Perfetto, Franco Bergesio, Anna Miliani, Stefano Del Pace, Sabrina Frusconi, Barbara Minuti, Elisabetta Pelo, Francesca Torricelli
Affiliations
Case Reports

A new ATTR Phe64Ile mutation with late-onset multiorgan involvement

Roberto Tarquini et al. Amyloid. 2007 Dec.

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.

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