A new ATTR Phe64Ile mutation with late-onset multiorgan involvement

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

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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amyloidosis, Familial / genetics*
  • Amyloidosis, Familial / pathology
  • Base Sequence
  • Cardiomyopathies / genetics
  • Cardiomyopathies / pathology
  • Codon / genetics
  • DNA Mutational Analysis
  • Echocardiography
  • Exons / genetics
  • Humans
  • Isoleucine / genetics
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Phenylalanine / genetics
  • Prealbumin / genetics*

Substances

  • Codon
  • Prealbumin
  • Isoleucine
  • Phenylalanine