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 during the first year of life. Two other boys (maternal cousins) were found to have severe congenital ataxia, late-onset...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.