Homozygous Machado Joseph Disease: a case report and review of literature

Can J Neurol Sci. 2010 Jul;37(4):521-3. doi: 10.1017/s0317167100010581.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Ataxin-3
  • Homozygote
  • Humans
  • Machado-Joseph Disease / genetics*
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Repressor Proteins / genetics*
  • Trinucleotide Repeat Expansion*

Substances

  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • ATXN3 protein, human
  • Ataxin-3