Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin

J Invest Dermatol. 2006 Jul;126(7):1651-4. doi: 10.1038/sj.jid.5700291. Epub 2006 Apr 20.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acids / analysis
  • Base Sequence
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / physiopathology
  • DNA / analysis
  • DNA / genetics
  • Desmoplakins / genetics*
  • Fatal Outcome
  • Female
  • Genes, Dominant / genetics*
  • Hair Diseases / genetics*
  • Heterozygote
  • Humans
  • Keratoderma, Palmoplantar / complications
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / physiopathology
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Pedigree
  • Skin / pathology
  • Ventricular Dysfunction, Left / physiopathology

Substances

  • Amino Acids
  • Desmoplakins
  • DNA