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Case Reports
. 1986 Nov;76(1):105-21.
doi: 10.1016/0022-510x(86)90145-0.

Autosomally Inherited Recessive Spastic Ataxia, Macular Corneal Dystrophy, Congenital Cataracts, Myopia and Vertically Oval Temporally Tilted Discs. Report of a Bedouin Family--A New Syndrome

Case Reports

Autosomally Inherited Recessive Spastic Ataxia, Macular Corneal Dystrophy, Congenital Cataracts, Myopia and Vertically Oval Temporally Tilted Discs. Report of a Bedouin Family--A New Syndrome

A R Mousa et al. J Neurol Sci. .

Abstract

A Bedouin family is described with an unusual form of spinocerebellar degeneration. Spastic ataxia was found to be associated with congenital cataracts, macular corneal dystrophy and non-axial myopia, in the absence of retardation of somatic or mental maturation. Immunological abnormalities were common. Genetic analysis revealed that the pedigree is expressing the transmission and segregation of a single mutant autosomal recessive gene.

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