Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy

FEBS Lett. 1995 Feb 13;359(2-3):203-5. doi: 10.1016/0014-5793(95)00046-c.

Abstract

We report the molecular analysis of the transthyretin gene in a large Italian pedigree with familial amyloidotic polyneuropathy and demonstrate the presence of a Met30 mutation. The usefulness of the genetic analysis in the identification of presymptomatic persons and the diagnosis of individuals with partial symptoms is discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloid Neuropathies / genetics*
  • Base Sequence
  • DNA Primers
  • Female
  • Humans
  • Italy
  • Male
  • Methionine / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Prealbumin / genetics*

Substances

  • DNA Primers
  • Prealbumin
  • Methionine