DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst

Clin Genet. 2016 Nov;90(5):472-474. doi: 10.1111/cge.12805. Epub 2016 Jun 14.
No abstract available

Publication types

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

MeSH terms

  • Brain Diseases / genetics*
  • Dynamins
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Leigh Disease / genetics*
  • Microtubule-Associated Proteins / genetics*
  • Mitochondrial Proteins / genetics*
  • Phenotype

Substances

  • Microtubule-Associated Proteins
  • Mitochondrial Proteins
  • GTP Phosphohydrolases
  • DNM1L protein, human
  • Dynamins