Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis

Pediatr Neurol. 2016 Sep:62:71-2. doi: 10.1016/j.pediatrneurol.2016.04.001. Epub 2016 Apr 18.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Atrophy / etiology
  • Atrophy / pathology
  • Child
  • Diagnostic Techniques, Ophthalmological
  • Eye / pathology*
  • Female
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Membrane Glycoproteins / genetics*
  • Molecular Chaperones / genetics*
  • Neuronal Ceroid-Lipofuscinoses / diagnosis*
  • Neuronal Ceroid-Lipofuscinoses / genetics
  • Optic Nerve / pathology
  • Visual Acuity / physiology

Substances

  • CLN3 protein, human
  • Membrane Glycoproteins
  • Molecular Chaperones