Article
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.
American journal of medical genetics - 12 Jul 1996
des Portes V, Bachner L, Brüls T, Beldjord C, Billuart P, Soufir N, Bienvenu T, Vinet M C, Malaspina E, Marchiani V, Bertini E, Kahn A, Franzoni E, Chelly J
Abstract excerpt
Linkage analysis was performed in a previously described family segregating for an X-linked progressive neurological disorder [Bertini et al., 1992]. In three generations, the disease was inherited from the mothers in seven affected males (Fig. 1). Five had severe congenital hypotonia and died du...
Topics
- Ataxia
- DNA, Satellite
- Epilepsies, Myoclonic
- Female
- Genetic Linkage
- Genotype
- Humans
- Intellectual Disability
- Macular Degeneration
- Male
- Pedigree
- X Chromosome