Article
Novel KRIT1 mutation and no molecular evidence of anticipation in a family with cerebral and spinal cavernous malformations.
European neurology - 1 Jan 2009
Kuhn Jens, Brümmendorf Tim H, Brassat Ute, Lehnhardt Fritz G, Chung Boi-Dinh, Harnier Simon, Bewermeyer Heiko, Harzheim Andreas, Assheuer Josef, Netzer Christian
Abstract excerpt
BACKGROUND: Cerebral cavernous malformations (CCM) are vascular brain anomalies which can result in a variety of neurological symptoms. Familial CCM is inherited as an autosomal-dominant trait. There is one study in the literature which reports statistical evidence for anticipation in familial CC...
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