Are some C19orf12 variants monoallelic for neurological disorders?

Parkinsonism Relat Disord. 2019 Aug:65:267-269. doi: 10.1016/j.parkreldis.2019.05.020. Epub 2019 May 13.
No abstract available

Keywords: C19orf12; MPAN; Monoallelic; Pakistan.

Publication types

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

MeSH terms

  • Adolescent
  • Alleles
  • Female
  • Humans
  • Iron Metabolism Disorders* / genetics
  • Iron Metabolism Disorders* / metabolism
  • Iron Metabolism Disorders* / pathology
  • Iron Metabolism Disorders* / physiopathology
  • Male
  • Mitochondrial Proteins / genetics*
  • Neuroaxonal Dystrophies* / genetics
  • Neuroaxonal Dystrophies* / metabolism
  • Neuroaxonal Dystrophies* / pathology
  • Neuroaxonal Dystrophies* / physiopathology
  • Pedigree

Substances

  • C19orf12 protein, human
  • Mitochondrial Proteins

Supplementary concepts

  • Neurodegeneration with brain iron accumulation (NBIA)