Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.

Abstract

Mutations in the gene CHN1 have been described in autosomal dominant Duane's retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocular motility disorders.

Bibliografische Daten

OriginalspracheEnglisch
Aufsatznummer9
ISSN0721-832X
StatusVeröffentlicht - 2010
Extern publiziertJa
pubmed 20535495