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 fa...
Topics
- Cerebral Hemorrhage
- Child, Preschool
- Codon, Nonsense
- DNA Mutational Analysis
- Haplotypes
- Hemangioma, Cavernous, Central Nervous System
- Heterozygote
- Humans
- KRIT1 Protein
- Magnetic Resonance Imaging
- Microtubule-Associated Proteins
- Pedigree
- Penetrance
- Phenotype