Extremely early onset hereditary ATTR amyloidosis with G47R (p.G67R) mutation

Amyloid. 2016 Sep;23(3):205-206. doi: 10.1080/13506129.2016.1185410. Epub 2016 May 20.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Amyloid / blood
  • Amyloidosis, Familial / blood
  • Amyloidosis, Familial / diagnosis
  • Amyloidosis, Familial / genetics*
  • Amyloidosis, Familial / pathology
  • Cardiomyopathies / blood
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • Female
  • Gene Expression
  • Heterozygote
  • Humans
  • Mutation*
  • Pedigree
  • Prealbumin / genetics*
  • Prealbumin / metabolism

Substances

  • Amyloid
  • Prealbumin