Article
Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.
Journal of molecular neuroscience : MN - 1 Oct 2010
Pileggi Silvana, Buscone Serena, Ricci Claudia, Patrosso Maria Cristina, Marocchi Alessandro, Brunori Paola, Battistini Stefania, Penco Silvana
Abstract excerpt
Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in seizures, haemorrhage, recurrent headaches and focal neurologic deficit. CCMs can occur as an autosomal dominant trait with incomplete penetrance and a wide phenotypic variab...
Topics
- Apoptosis Regulatory Proteins
- Carrier Proteins
- Exons
- Family Health
- Female
- Genetic Variation
- Haplotypes
- Hemangioma, Cavernous, Central Nervous System
- Humans
- Introns
- Italy
- KRIT1 Protein
- Male
- Membrane Proteins
- Microtubule-Associated Proteins