PEX10-related autosomal recessive cerebellar ataxia with hearing loss

Acta Neurol Belg. 2020 Apr;120(2):429-432. doi: 10.1007/s13760-018-0987-8. Epub 2018 Jul 19.
No abstract available

Keywords: Ataxia; Deafness; Peroxisomal biogenesis disorders.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Atrophy / pathology
  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / pathology
  • Hearing Loss / etiology
  • Hearing Loss / genetics*
  • Humans
  • Peroxins / genetics*
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Siblings

Substances

  • PEX10 protein, human
  • Peroxins
  • Receptors, Cytoplasmic and Nuclear