Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles.

Abstract excerpt

PURPOSE: To report recurrent mutation of the KIF21A gene in three Japanese families in which some members have congenital fibrosis of the extraocular muscles type 1 (CFEOM1), and to describe the clinical characteristics of the families. METHODS: Standard ocular examinations were performed on 18 normal and affected members of three unrelated families. To detect mutations, we determined the DNA sequence of exons 8,...

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