Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD)

BMJ Case Rep. 2021 Mar 25;14(3):e242586. doi: 10.1136/bcr-2021-242586.
No abstract available

Keywords: developmental paediatrocs; genetics; radiology.

Publication types

  • Case Reports

MeSH terms

  • Group VI Phospholipases A2 / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Mutation
  • Neuroaxonal Dystrophies* / diagnostic imaging
  • Neuroaxonal Dystrophies* / genetics
  • Phospholipases*

Substances

  • Phospholipases
  • Group VI Phospholipases A2
  • PLA2G6 protein, human