[Genetic confirmation of myoadenylate deaminase deficiency]

Rev Neurol. 2014 Oct 16;59(8):382-3.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • English Abstract
  • Letter

MeSH terms

  • AMP Deaminase / deficiency*
  • AMP Deaminase / genetics
  • Amino Acid Substitution
  • Child
  • Female
  • Homozygote
  • Humans
  • Mutation, Missense
  • Physical Examination
  • Point Mutation
  • Protein Isoforms / deficiency
  • Protein Isoforms / genetics
  • Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics*

Substances

  • Protein Isoforms
  • AMP Deaminase
  • AMPD1 protein, human

Supplementary concepts

  • Adenosine monophosphate deaminase deficiency