De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

Brain. 2017 Jun 1;140(6):e34. doi: 10.1093/brain/awx083.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Atrophy
  • Humans
  • Hypoventilation
  • Muscular Atrophy, Spinal*
  • Mutation
  • Phenotype
  • Polyneuropathies*
  • Respiratory Paralysis*
  • Spinocerebellar Degenerations*
  • Transcription Factors / genetics

Substances

  • MORC2 protein, human
  • Transcription Factors