Heterozygous OPA1 mutations in Behr syndrome

Brain. 2011 Apr;134(Pt 4):e169; author reply e170. doi: 10.1093/brain/awq306. Epub 2010 Nov 26.
No abstract available

Publication types

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

MeSH terms

  • Ataxia / genetics
  • GTP Phosphohydrolases / genetics*
  • Hearing Loss / genetics
  • Humans
  • Intellectual Disability / genetics
  • Mutation
  • Optic Atrophy / congenital
  • Optic Atrophy / genetics
  • Spasm / genetics

Substances

  • GTP Phosphohydrolases
  • OPA1 protein, human

Supplementary concepts

  • Behr syndrome