Article
CCM3 mutations are uncommon in cerebral cavernous malformations.
Neurology - 27 Dec 2005
Verlaan D J, Roussel J, Laurent S B, Elger C E, Siegel A M, Rouleau G A
Abstract excerpt
Cerebral cavernous malformations (CCMs) are characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. Mutations in the gene PDCD10 have been found in CCM families linked to the CCM3 locus. The authors screened this gene in 15 families that did not have a CCM1 or CCM2 mutation. Only two novel mutations were found, suggesting that mutations in this gene may only account for a...
Topics
- Apoptosis Regulatory Proteins
- Cerebral Arteries
- Cerebral Cortex
- Chromosome Mapping
- Chromosomes, Human, Pair 3
- Codon, Nonsense
- DNA Mutational Analysis
- Female
- Genetic Markers
- Genetic Predisposition to Disease
- Genetic Testing