LMNB1 mutation causes cerebellar involvement and a genome instability defect

J Neurol Sci. 2017 Aug 15:379:249-252. doi: 10.1016/j.jns.2017.06.027. Epub 2017 Jun 16.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Cerebellum / pathology*
  • Cisplatin / adverse effects
  • DNA Damage / drug effects
  • Exome Sequencing
  • Female
  • Fibroblasts / metabolism
  • Genomic Instability*
  • Humans
  • Hydrogen Peroxide / adverse effects
  • Lamin Type B / biosynthesis
  • Lamin Type B / genetics*
  • Leukoencephalopathies / genetics*
  • Leukoencephalopathies / metabolism
  • Leukoencephalopathies / pathology*
  • Mutation, Missense
  • Primary Cell Culture
  • Temozolomide / adverse effects

Substances

  • Lamin Type B
  • Hydrogen Peroxide
  • Cisplatin
  • Temozolomide

Supplementary concepts

  • Hereditary Diffuse Leukoencephalopathy with Spheroids