OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

J Med Genet. 2004 Sep;41(9):e110. doi: 10.1136/jmg.2003.016576.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Sequence
  • Apoptosis / drug effects
  • Cataract / complications*
  • Cataract / genetics*
  • Child
  • DNA Mutational Analysis
  • Female
  • Fibroblasts
  • France
  • Genes, Dominant / genetics*
  • Humans
  • Infant
  • Lod Score
  • Male
  • Membrane Potentials
  • Middle Aged
  • Mitochondria / metabolism
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Optic Atrophy, Autosomal Dominant / complications*
  • Optic Atrophy, Autosomal Dominant / genetics*
  • Pedigree
  • Proteins / chemistry
  • Proteins / genetics*
  • Staurosporine / pharmacology

Substances

  • OPA3 protein, human
  • Proteins
  • Staurosporine

Associated data

  • OMIM/165500
  • OMIM/53500