Article
Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.
The FEBS journal - 1 Mar 2010
Riant Florence, Bergametti Francoise, Ayrignac Xavier, Boulday Gwenola, Tournier-Lasserve Elisabeth
Abstract excerpt
Cerebral cavernous malformations (CCM) are vascular lesions which can occur as a sporadic (80% of the cases) or familial autosomal dominant form (20%). Three CCM genes have been identified: CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. Almost 80% of CCM patients affected with a genetic form of the di...
Topics
- Animals
- Genetic Predisposition to Disease
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Microtubule-Associated Proteins
- Proto-Oncogene Proteins