Unexpected combination of inherited chorea-acanthocytosis with MDR3 (ABCB4) defect mimicking Wilson's disease

Clin Genet. 2010 Sep;78(3):294-5. doi: 10.1111/j.1399-0004.2010.01386.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B / genetics*
  • Adult
  • Consanguinity
  • Diagnosis, Differential
  • Family Health
  • Female
  • Hepatolenticular Degeneration / diagnosis
  • Hepatolenticular Degeneration / genetics*
  • Humans
  • Male
  • Mutation*
  • Neuroacanthocytosis / diagnosis
  • Neuroacanthocytosis / genetics*
  • Pedigree

Substances

  • ATP Binding Cassette Transporter, Subfamily B
  • multidrug resistance protein 3