A new ATTR Phe64Ile mutation with late-onset multiorgan involvement

被引：1

作者：

Tarquini, Roberto ^{[1
]}

Perfetto, Federico ^{[1
]}

Bergesio, Franco ^{[2
]}

Miliani, Anna ^{[1
]}

Del Pace, Stefano ^{[3
]}

Frusconi, Sabrina ^{[4
]}

Minuti, Barbara ^{[4
]}

Pelo, Elisabetta ^{[4
]}

Torricelli, Francesca ^{[4
]}

机构：

[1] Azienda Univ Osped Careggi, Dept Internal Med, I-50143 Florence, Italy

[2] Azienda Univ Osped Careggi, Unita Nefrol, Florence, Italy

[3] Univ Florence, Dipartimento Area Crit Med Chirurg, I-50121 Florence, Italy

[4] Azienda Univ Osped Careggi, SOD Diagnost Genet, Florence, Italy

来源：

AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS | 2007年 / 14卷 / 04期

关键词：

amyloidosis; transthyretin; cardiomyopathy; polyneuropathy;

D O I：

10.1080/13506120701614172

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：289 / 292

页数：4

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