Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.

doi:10.1080/13816810490902828

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Article

Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.

Ophthalmic genetics - 1 Dec 2004

Tiab Leila, d'Allèves Manzi Violaine, Borruat François-Xavier, Munier Francis, Schorderet Daniel

Abstract excerpt

PURPOSE: CFEOM type 1 refers to a group of congenital eye movement disorders that is characterized by nonprogressive ophthalmoplegia affecting all the extraocular muscles. Individuals with the classic form of CFEOM are born with bilateral ptosis, infraducted eyes, and impossibility to raise their eyes above midline. This phenotype is often inherited as an autosomal dominant trait. CFEOM1 maps to the FEOM1 locus...

Topics

Chromosomes, Human, Pair 12
DNA Mutational Analysis
Facial Muscles
Female
Fibrosis
Genetic Linkage
Genetic Variation
Haplotypes
Humans
Kinesins
Male
Microsatellite Repeats
Mutation
Nerve Tissue Proteins
Oculomotor Muscles
Ophthalmoplegia
Pedigree
Phenotype

Source

Open in PubMed

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PMID: 15621876
DOI: 10.1080/13816810490902828

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