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X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.
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.
Affiliation
  • des Portes V; Unité INSERM 129 de Recherche en Génétique et Pathologie Moléculaires, Faculté de Médecine Cochin, Paris, France.
Am J Med Genet ; 64(1): 69-72, 1996 Jul 12.
Article in En | MEDLINE | ID: mdl-8826451
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Database: MEDLINE Main subject: Ataxia / X Chromosome / Epilepsies, Myoclonic / Genetic Linkage / Macular Degeneration / Intellectual Disability Limits: Female / Humans / Male Language: En Journal: Am J Med Genet Year: 1996 Type: Article Affiliation country: France
Search on Google
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PubMed Links

Database: MEDLINE Main subject: Ataxia / X Chromosome / Epilepsies, Myoclonic / Genetic Linkage / Macular Degeneration / Intellectual Disability Limits: Female / Humans / Male Language: En Journal: Am J Med Genet Year: 1996 Type: Article Affiliation country: France