Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism

Mov Disord. 2017 Dec;32(12):1792-1794. doi: 10.1002/mds.27188. Epub 2017 Oct 30.
No abstract available

Keywords: fork stalling and template switching; microhomology-mediated break-induced replication; nonallelic homologous recombination; spastic paraplegia.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • DNA Mutational Analysis
  • Dystonia / genetics*
  • Exons
  • Female
  • Humans
  • Mutation*
  • Proteins / genetics*
  • Spastic Paraplegia, Hereditary / genetics*
  • Young Adult

Substances

  • Proteins
  • SPG11 protein, human

Supplementary concepts

  • Spastic paraplegia 11, autosomal recessive