一种新的伴有迟发性多器官受累的甲状腺转运蛋白淀粉样变Phe64Ile突变。

A new ATTR Phe64Ile mutation with late-onset multiorgan involvement.

作者信息

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

机构信息

Dipartimento di Medicina Interna, Azienda Universitaria Ospedaliera Careggi, Florence, Italy.

出版信息

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

DOI:10.1080/13506120701614172

PMID:17968689

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.

摘要

我们描述了一种新型的转甲状腺素蛋白突变，其中第3外显子64密码子处的苯丙氨酸被异亮氨酸取代：Phe64Ile。该突变发现于一名散发病例，无法进行家系研究。其表型包括心脏和周围神经受累，可能还伴有胃肠道和肾脏受累。