Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis

J Neurol. 2012 Oct;259(10):2226-8. doi: 10.1007/s00415-012-6529-z. Epub 2012 May 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • Amyloid Neuropathies, Familial / diagnosis*
  • Amyloid Neuropathies, Familial / genetics
  • Amyloidosis / diagnosis*
  • Biopsy
  • Cardiomyopathy, Restrictive / etiology
  • Coronary Artery Disease / complications
  • Diabetes Mellitus, Type 2 / complications
  • Diagnostic Errors*
  • Humans
  • Immunoglobulin Light-chain Amyloidosis
  • Immunohistochemistry
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Prealbumin / genetics*

Substances

  • Prealbumin

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related