Article
Molecular diagnosis in cerebral cavernous malformations.
Neurologia (Barcelona, Spain) - 1 Oct 2017
Mondejar R, Lucas M
Abstract excerpt
INTRODUCTION: Cerebral cavernous malformations (CCMs; OMIM 116860) are enlarged vascular cavities without intervening brain parenchyma whose estimated prevalence in the general population is between 0.1% and 0.5%. Familial CCM is an autosomal dominant disease with incomplete clinical and radiolog...
Topics
- Apoptosis Regulatory Proteins
- Carrier Proteins
- DNA Copy Number Variations
- Genetic Testing
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Membrane Proteins
- Mutation
- Proto-Oncogene Proteins