Article
A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas.
Journal of molecular neuroscience : MN - 1 Jul 2015
Cigoli M S, De Benedetti S, Marocchi A, Bacigaluppi S, Primignani P, Gesu G, Citterio A, Tassi L, Mecarelli O, Pulitano P, Penco S
Abstract excerpt
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, headaches, intracerebral hemorrhages, and focal neurological deficits; they can also be clinically silent and occur as a sporadic or an autosomal dominant condition. Three genes have been identified as cau...
Topics
- Adolescent
- Adult
- Aged
- Carrier Proteins
- Central Nervous System Neoplasms
- Child
- Exons
- Female
- Hemangioma, Cavernous, Central Nervous System
- Humans
- Male
- Mutation
- Pedigree
- Skin Neoplasms