A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28

J Neurol Sci. 2015 Nov 15;358(1-2):530-1. doi: 10.1016/j.jns.2015.10.003. Epub 2015 Oct 3.
No abstract available

Keywords: AFG3L2; African descent; SCA28; Spinocerebellar ataxia.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATP-Dependent Proteases / genetics*
  • ATPases Associated with Diverse Cellular Activities
  • Aged
  • Humans
  • Male
  • Mutation
  • Somalia
  • Spinocerebellar Ataxias / congenital*
  • Spinocerebellar Ataxias / genetics
  • Spinocerebellar Ataxias / pathology
  • Spinocerebellar Ataxias / physiopathology

Substances

  • ATP-Dependent Proteases
  • AFG3L2 protein, human
  • ATPases Associated with Diverse Cellular Activities

Supplementary concepts

  • Spinocerebellar ataxia 28