A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy

Muscle Nerve. 2005 Aug;32(2):223-5. doi: 10.1002/mus.20331.

Abstract

We report a Chinese patient with amyloidotic polyneuropathy associated with a novel transthyretin mutation (V32A). He presented with slowly progressive sensorimotor polyneuropathy accompanied by autonomic dysfunction and cardiomyopathy by echocardiography. This mutation is likely to be associated with late onset and low-penetrance phenotype.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Aged
  • Amino Acid Substitution
  • Amyloid Neuropathies / ethnology
  • Amyloid Neuropathies / genetics*
  • Amyloid Neuropathies / physiopathology*
  • Asian People
  • Autonomic Nervous System Diseases / genetics
  • Autonomic Nervous System Diseases / physiopathology
  • Base Sequence
  • Cardiomyopathies / genetics
  • Cardiomyopathies / physiopathology
  • China / ethnology
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Penetrance
  • Phenotype
  • Point Mutation / genetics
  • Prealbumin / genetics*
  • Singapore

Substances

  • Prealbumin