Article
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.
Neurology - 1 Nov 1993
Ben Hamida M, Belal S, Sirugo G, Ben Hamida C, Panayides K, Ionannou P, Beckmann J, Mandel J L, Hentati F, Koenig M
Abstract excerpt
Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disorder, the disease locus (FRDA) of which has been assigned to 9q13-q21.1 by genetic linkage analysis in affected families. We report two large inbred Tunisian families with FA manifestations that did not show the expected linkage. The disease locus could be excluded from a large (12 cMo) region around FRDA. This is the first report providing...
Topics
- Adult
- Chromosomes, Human, Pair 9
- Consanguinity
- Female
- Friedreich Ataxia
- Genetic Linkage
- Humans
- Lod Score
- Male
- Phenotype
- Tunisia