Article
Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Jul 2007
Gianfrancesco Fernando, Cannella Milena, Martino Tiziana, Maglione Vittorio, Esposito Teresa, Innocenzi Gualtiero, Vitale Emilia, Liquori Christina L, Marchuk Douglas A, Squitieri Ferdinando
Abstract excerpt
Cavernous vascular malformations may affect brain and out-of-brain tissues. In most cases, cerebral cavernous malformations (CCMs) involve the brain alone, and are rarely associated with skin hemangiomas, spinal cord, retinal, hepatic or vertebral lesions. CCMs can cause seizures, intracranial an...
Topics
- Adult
- Brain
- Carrier Proteins
- Female
- Gene Expression Regulation
- Hemangioma, Cavernous, Central Nervous System
- Humans
- Italy
- KRIT1 Protein
- Male
- Microtubule-Associated Proteins
- Middle Aged
- Mutation