A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies

Parkinsonism Relat Disord. 2014 Aug;20(8):935-7. doi: 10.1016/j.parkreldis.2014.04.026. Epub 2014 May 9.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Video-Audio Media

MeSH terms

  • Adult
  • Age of Onset
  • Amino Acid Sequence
  • Apoferritins / genetics*
  • Brain / pathology*
  • Brain / physiopathology
  • Frameshift Mutation
  • Humans
  • Iron Metabolism Disorders / genetics*
  • Iron Metabolism Disorders / pathology*
  • Iron Metabolism Disorders / physiopathology
  • Male
  • Molecular Sequence Data
  • Neuroaxonal Dystrophies / genetics*
  • Neuroaxonal Dystrophies / pathology*
  • Neuroaxonal Dystrophies / physiopathology

Substances

  • FTL protein, human
  • Apoferritins

Supplementary concepts

  • Neuroferritinopathy