Article
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.
BMC genetics - 1 Jan 2002
Engle Elizabeth C, McIntosh Nathalie, Yamada Koki, Lee Bjorn A, Johnson Roger, O'Keefe Michael, Letson Robert, London Arnold, Ballard Evan, Ruttum Mark, Matsumoto Naomichi, Saito Nakamichi, Collins Mary Louise Z, Morris Lisa, Del Monte Monte, Magli Adriano, de Berardinis Teresa
Abstract excerpt
BACKGROUND: To learn about the molecular etiology of strabismus, we are studying the genetic basis of 'congenital fibrosis of the extraocular muscles' (CFEOM). These syndromes are characterized by congenital restrictive ophthalmoplegia affecting muscles in the oculomotor and trochlear nerve distribution. Individuals with the classic form of CFEOM are born with bilateral ptosis and infraducted globes. When all...
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