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Publication : Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

First Author  Yamada K Year  2003
Journal  Nat Genet Volume  35
Issue  4 Pages  318-21
PubMed ID  14595441 Mgi Jnum  J:186073
Mgi Id  MGI:5430898 Doi  10.1038/ng1261
Citation  Yamada K, et al. (2003) Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet 35(4):318-21
abstractText  Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.
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