A Phenotypic Variation of Dominant Optic Atrophy and Deafness (ADOAD) Due to a Novel OPA1 Mutation

J Neurol. 2008 Jan;255(1):127-9. doi: 10.1007/s00415-008-0571-x. Epub 2008 Jan 22.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Ataxia / genetics
  • Child
  • DNA Mutational Analysis
  • Disease Progression
  • Energy Metabolism / genetics
  • Female
  • GTP Phosphohydrolases / genetics*
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / pathology
  • Hearing Loss, Sensorineural / physiopathology
  • Humans
  • Male
  • Mitochondria / genetics
  • Mitochondria / pathology
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / pathology
  • Mitochondrial Diseases / physiopathology
  • Muscle Weakness / genetics
  • Mutation / genetics*
  • Optic Atrophy, Autosomal Dominant / genetics*
  • Optic Atrophy, Autosomal Dominant / pathology
  • Optic Atrophy, Autosomal Dominant / physiopathology
  • Pedigree
  • Phenotype
  • Somatosensory Disorders / genetics
  • Syndrome

Substances

  • Genetic Markers
  • GTP Phosphohydrolases
  • OPA1 protein, human