Article
Deletions in CCM2 are a common cause of cerebral cavernous malformations.
American journal of human genetics - 1 Jan 2007
Liquori Christina L, Berg Michel J, Squitieri Ferdinando, Leedom Tracey P, Ptacek Louis, Johnson Eric W, Marchuk Douglas A
Abstract excerpt
Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in a variety of neurological disabilities, including hemorrhagic stroke and seizures. Mutations in the gene KRIT1 are responsible for CCM1, mutations in the gene MGC4607 are responsible for CCM2, and m...
Topics
- Brain Neoplasms
- Carrier Proteins
- Female
- Genetic Linkage
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Male
- Microtubule-Associated Proteins
- Mutation
- Pedigree
- Proto-Oncogene Proteins