Article
Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.
BioMed research international - 1 Jan 2013
D'Angelo Rosalia, Alafaci Concetta, Scimone Concetta, Ruggeri Alessia, Salpietro Francesco Maria, Bramanti Placido, Tomasello Francesco, Sidoti Antonina
Abstract excerpt
Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities, affecting the central nervous system. CCMs can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attribu...
Topics
- 3' Untranslated Regions
- Adolescent
- Adult
- Aged
- Amino Acid Sequence
- Apoptosis Regulatory Proteins
- Base Sequence
- Carrier Proteins
- Child
- Child, Preschool
- Exons
- Female
- Genetic Predisposition to Disease
- Hemangioma, Cavernous, Central Nervous System