Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

Brain. 2016 Mar;139(Pt 3):e19. doi: 10.1093/brain/awv362. Epub 2015 Dec 10.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / genetics*
  • Homozygote*
  • Humans
  • Male
  • Metalloendopeptidases / genetics*
  • Mitochondrial Processing Peptidase
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree

Substances

  • Metalloendopeptidases