Long-term survival in a patient with muscle-eye-brain disease

Neurol Sci. 2015 Nov;36(11):2147-9. doi: 10.1007/s10072-015-2321-z. Epub 2015 Jul 8.
No abstract available

Keywords: Childhood; Congenital muscular dystrophy (CMD); Long-term survival; MRI; Muscle–eye–brain.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Brain / pathology
  • Disease Progression
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • N-Acetylglucosaminyltransferases / genetics
  • Severity of Illness Index
  • Walker-Warburg Syndrome / genetics
  • Walker-Warburg Syndrome / pathology
  • Walker-Warburg Syndrome / physiopathology*
  • Walker-Warburg Syndrome / therapy

Substances

  • N-Acetylglucosaminyltransferases
  • protein O-mannose beta-1,2-N-acetylglucosaminyltransferase