Clinical, Radiological, and Genetic Survey of Patients With Muscle-Eye-Brain Disease Caused by Mutations in POMGNT1

YİŞ U., Uyanik G., Rosendahl D. M., ÇARMAN K. B., Bayram E., Heise M., ...More

PEDIATRIC NEUROLOGY, vol.50, no.5, pp.491-497, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 5
  • Publication Date: 2014
  • Doi Number: 10.1016/j.pediatrneurol.2014.01.008
  • Journal Name: PEDIATRIC NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.491-497
  • Keywords: muscle-eye-brain disease, Turkey, POMGNT1 gene, ophthalmology, neuroradiology, CONGENITAL MUSCULAR-DYSTROPHY, WALKER-WARBURG-SYNDROME, ALPHA-DYSTROGLYCAN, ABNORMAL GLYCOSYLATION, PHENOTYPIC SPECTRUM, MEB DISEASE, HYPOGLYCOSYLATION, MIGRATION, FORM
  • Dokuz Eylül University Affiliated: Yes

Abstract

BACKGROUND: To evaluate clinical, genetic, and radiologic features of our patients with muscle-eye-brain disease.