Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome

Am J Med Genet. 2002 Nov 1;112(4):427-8. doi: 10.1002/ajmg.10628.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Aged
  • Chromosomes, Human, X / genetics*
  • Dystonia / genetics
  • Dystonia / pathology
  • Family Health
  • Female
  • Genetic Linkage
  • Homeodomain Proteins / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Middle Aged
  • Nervous System Diseases / genetics
  • Nervous System Diseases / pathology
  • Pedigree
  • Transcription Factors / genetics*
  • Tremor / genetics
  • Tremor / pathology

Substances

  • ARX protein, human
  • Homeodomain Proteins
  • Transcription Factors