Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Age of Onset
  • Ataxia / genetics*
  • Blindness / etiology
  • Blindness / genetics
  • Child
  • Constipation / etiology
  • DNA / genetics
  • Deglutition Disorders / etiology
  • Female
  • GTP Phosphohydrolases / genetics*
  • GTP Phosphohydrolases / metabolism
  • Hearing Loss / genetics*
  • Heterozygote
  • Humans
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics
  • Mutation / physiology
  • Optic Atrophy / congenital*
  • Optic Atrophy / genetics
  • Optic Atrophy, Autosomal Dominant / complications
  • Optic Atrophy, Autosomal Dominant / genetics
  • Optic Atrophy, Autosomal Dominant / pathology
  • Peripheral Nervous System Diseases / complications
  • Peripheral Nervous System Diseases / genetics
  • Peripheral Nervous System Diseases / pathology
  • Spasm / genetics*

Substances

  • DNA
  • GTP Phosphohydrolases
  • OPA1 protein, human

Supplementary concepts

  • Behr syndrome