Fatigable ptosis as an initial presentation of adult-onset Leigh syndrome

Neurology. 2017 Oct 17;89(16):1754. doi: 10.1212/WNL.0000000000004528.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Blepharoptosis / diagnosis
  • Blepharoptosis / genetics*
  • Brain / pathology
  • Humans
  • Leigh Disease / diagnosis
  • Leigh Disease / genetics*
  • Male
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Mutation / genetics*
  • Optic Atrophies, Hereditary / diagnosis
  • Optic Atrophies, Hereditary / genetics
  • Young Adult

Substances

  • MT-ATP6 protein, human
  • Mitochondrial Proton-Translocating ATPases

Supplementary concepts

  • Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult