A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy

Clin Genet. 2014 Mar;85(3):290-2. doi: 10.1111/cge.12137. Epub 2013 Mar 25.
No abstract available

Publication types

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

MeSH terms

  • Atrophy
  • Axons
  • Biopsy
  • Cerebellar Diseases / diagnosis
  • Cerebellar Diseases / genetics*
  • Cerebellar Diseases / pathology*
  • Child
  • Consanguinity
  • DNA Mutational Analysis
  • Frameshift Mutation*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mitochondrial Proteins / genetics*
  • Motor Neurons
  • Muscles / pathology
  • Neural Conduction
  • Pedigree
  • Peripheral Nervous System Diseases / diagnosis

Substances

  • C19orf12 protein, human
  • Mitochondrial Proteins