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A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11

par Reyniers, Edwin;Van Bogaert, Patrick ;Peeters, Nils;Vits, Lieve;Pauly, Fernand;Fransen, Erik;Van Regemorter, Nicole ;Kooy, Frank R.F.
Référence American journal of human genetics, 65, 5, page (1406-1412)
Publication Publié, 1999

Article révisé par les pairs

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Résumé :

Choreoathetosis is a major clinical feature in only a small number of hereditary neurological disorders. We define a new X-linked syndrome with a unique clinical picture characterized by mild mental retardation, choreoathetosis, and abnormal behavior. We mapped the disease in a four- generation pedigree to chromosome Xp11 by linkage analysis and defined a candidate region containing a number of genes possibly involved in neuronal signaling, including a potassium channel gene and a neuronal G protein- coupled receptor.