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. , et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.19, ss.743-746, 2015 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 19 Konu: 6
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.ejpn.2015.06.003
  • Dergi Adı: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Sayfa Sayısı: ss.743-746

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.