Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism

Mov Disord. 2018 Dec;33(12):1968-1970. doi: 10.1002/mds.27516. Epub 2018 Nov 19.
No abstract available

Keywords: VPS13C; early-onset parkinsonism; genomic deletion; polyneuropathy.

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset*
  • Female
  • Homozygote*
  • Humans
  • Male
  • Parkinsonian Disorders / genetics*
  • Pedigree
  • Proteins / genetics*
  • Sequence Deletion / genetics*

Substances

  • Proteins
  • VPS13C protein, human