Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM)

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

    Research output: Contribution to journalArticlepeer-review

    Abstract

    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 this region of chromosome 12 or to other chromosomal locations implicated in disorders of lid or ocular movement. Recombinants in two CFEOM families potentially help to reduce the size of the candidate region on chromosome 12.
    Original languageEnglish
    Pages (from-to)985-988
    Number of pages3
    JournalJournal of Medical Genetics
    Volume35
    Issue number12
    Publication statusPublished - 1998

    Keywords

    • CFEOM
    • Chromosome 12
    • Heterogeneity

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