Ontology highlight
ABSTRACT:
SUBMITTER: Reyniers E
PROVIDER: S-EPMC1288294 | biostudies-literature | 1999 Nov
REPOSITORIES: biostudies-literature
Reyniers E E Van Bogaert P P Peeters N N Vits L L Pauly F F Fransen E E Van Regemorter N N Kooy R F RF
American journal of human genetics 19991101 5
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 prot ...[more]