A de novo C19orf12 heterozygous mutation in a patient with MPAN

Parkinsonism Relat Disord. 2018 Mar:48:109-111. doi: 10.1016/j.parkreldis.2017.12.025. Epub 2017 Dec 27.
No abstract available

Keywords: C19orf12; De novo mutation; Heterozygous mutation; MPAN; NBIA.

Publication types

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

MeSH terms

  • Adolescent
  • DNA Mutational Analysis
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proteins / metabolism
  • Mutation / genetics*
  • Neurodegenerative Diseases / diagnostic imaging
  • Neurodegenerative Diseases / genetics*

Substances

  • C19orf12 protein, human
  • Mitochondrial Proteins