Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)


Yamada K., Chan W., Andrews C., Bosley T., Sener E., Zwaan J., ...Daha Fazla

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, cilt.45, sa.7, ss.2218-2223, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 45 Konu: 7
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1167/iovs.03-1413
  • Dergi Adı: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
  • Sayfa Sayıları: ss.2218-2223

Özet

PURPOSE. Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3.