| Autor: |
Mousa AR, Al-Din AS, Al-Nassar KE, Al-Rifai KM, Rudwan M, Sunba MS, Behbehani K |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of the neurological sciences [J Neurol Sci] 1986 Nov; Vol. 76 (1), pp. 105-21. |
| DOI: |
10.1016/0022-510x(86)90145-0 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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