Article
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Nature genetics - 1 Dec 2003
Yamada Koki, Andrews Caroline, Chan Wai-Man, McKeown Craig A, Magli Adriano, de Berardinis Teresa, Loewenstein Anat, Lazar Moshe, O'Keefe Michael, Letson Robert, London Arnold, Ruttum Mark, Matsumoto Naomichi, Saito Nakamichi, Morris Lisa, Del Monte Monte, Johnson Roger H, Uyama Eiichiro, Houtman Willem A, de Vries Berendina, Carlow Thomas J, Hart Blaine L, Krawiecki Nicolas, Shoffner John, Vogel Marlene C, Katowitz James, Goldstein Scott M, Levin Alex V, Sener Emin C, Ozturk Banu T, Akarsu A Nurten, Brodsky Michael C, Hanisch Frank, Cruse Robert P, Zubcov Alina A, Robb Richard M, Roggenkäemper Peter, Gottlob Irene, Kowal Lionel, Battu Ravi, Traboulsi Elias I, Franceschini Piergiorgio, Newlin Anna, Demer Joseph L, Engle Elizabeth C
Abstract excerpt
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 i...
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