SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy

Mov Disord. 2016 Aug;31(8):1249-51. doi: 10.1002/mds.26716. Epub 2016 Jul 19.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Brain / diagnostic imaging
  • Consanguinity
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mitochondrial Proteins / genetics*
  • Mutation
  • Myoclonic Cerebellar Dyssynergia / complications
  • Myoclonic Cerebellar Dyssynergia / genetics*
  • Optic Atrophy / complications
  • Optic Atrophy / genetics*
  • Optic Nerve Diseases / complications
  • Optic Nerve Diseases / genetics*
  • Pedigree
  • Phosphate Transport Proteins / genetics*
  • Siblings

Substances

  • Mitochondrial Proteins
  • Phosphate Transport Proteins
  • SLC25A46 protein, human

Supplementary concepts

  • Hunt's syndrome