EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol.19, no.6, pp.743-746, 2015 (SCI-Expanded)
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.