Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

doi:10.1136/jmg.35.12.985

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Article

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

Journal of medical genetics - 1 Dec 1998

Black G C, Perveen R, Hatchwell E, Reck A, Clayton-Smith J

Abstract excerpt

Congenital external ophthalmoplegia (CFEOM) is an uncommon autosomal dominant condition that has previously been mapped to the pericentromeric region of chromosome 12 in seven families with no evidence of locus heterogeneity. We report three families with typical CFEOM. One family does not map to...

Topics

Chromosomes, Human, Pair 12
Female
Genes, Dominant
Genetic Heterogeneity
Humans
Male
Ophthalmoplegia
Pedigree
Phenotype

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