Article: article from journal or magazin.
Etude clinique et analyse de liaison au locus 3q28 de deux familles suisses avec atrophie optique dominante de Kjer (OPA1) [Clinical study and genetic 3q28 locus linkage in 2 Swiss families with Kjer dominant optic atrophy (OPA1)]
Klinische Monatsblätter für Augenheilkunde
Publication types: English Abstract ; Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
METHODS: We examined 20 patients from 2 unrelated Swiss families to describe their clinical phenotype. In addition, a linkage analysis was performed in an attempt to confirm the reported genetic homogeneity of this condition as well as to refine its genomic localization. RESULTS: Two point analysis provided a cumulative LOD-score of 3.03 with marker D3S 2305. The absence of recombination precluded further refinement of the disease interval. CONCLUSIONS: Our data confirm the genetic homogeneity and the extreme variability of expression, occasionally mimicking low tension glaucoma.
Adolescent, Adult, Child, Chromosome Aberrations, Chromosome Disorders, Chromosome Mapping, Chromosomes, Human, Pair 3, Female, Genes, Dominant, Genetic Markers, Humans, Linkage (Genetics), Male, Middle Aged, Optic Atrophies, Hereditary, Pedigree, Phenotype
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