Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

K, Yamada; WM, Chan; C, Andrews; TM, Bosley; EC, Sener; JT, Zwaan; PB, Mullaney; BT, Oztürk; AN, Akarsu; LJ, Sabol; JL, Demer; TJ, Sullivan; I, Gottlob; P, Roggenkäemper; DA, Mackey; Uzcategui CE, De; N, Uzcategui; B, Ben-Zeev; EI, Traboulsi; A, Magli; Berardinis T, de; V, Gagliardi; S, Awasthi-Patney; MC, Vogel; JF 3rd, Rizzo; EC, Engle

doi:10.1167/iovs.03-1413

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Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

Shared by NobleBlocks on Jul 1, 2004 • 12:00 AM UTC

Authors:

Yamada K

Chan WM

Andrews C

Abstract

Purpose Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from ...

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