A rare case of congenital fibrosis of extraocular muscle type IA due to KIF2IA mutation with Marcus Gunn jaw-winking phenomenon

Bayram A. K., PER H., Quon J., CANPOLAT M., Uelgen E., Dogan H., ...Daha Fazla

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.19, sa.6, ss.743-746, 2015 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 6
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.ejpn.2015.06.003
  • Dergi Adı: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.743-746
  • Anahtar Kelimeler: KIF21A, Marcus Gunn jaw-winking, phenomenon, CFEOM1, INNERVATION, CFEOM1
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

Background: Congenital fibrosis of the extraocular muscles (CFEOM1) is classically a congenital, non-progressive, restrictive strabismus syndrome characterized by bilateral ptosis and ophthalmoplegia with an infraducted position of the globes. This autosomal dominant syndrome is caused by mutations in the KIF21A gene.