Article
Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene.
BMC neurology - 23 Jul 2003
Lucas Miguel, Costa Alzenire F, García-Moreno José M, Solano Francisca, Gamero Miguel A, Izquierdo Guillermo
Abstract excerpt
BACKGROUND: Cerebral cavernous malformations (CCM) present as either sporadic or autosomal dominant conditions with incomplete penetrance of symptoms. Differences in genetic and environmental factors might be minimized among first-degree relatives. We therefore studied clinical expression in a family with several affected members. METHODS: We studied a three-generation family with the onset of CCM as a cerebral...
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