Article
Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas.
Nature genetics - 1 Oct 1999
Laberge-le Couteulx S, Jung H H, Labauge P, Houtteville J P, Lescoat C, Cecillon M, Marechal E, Joutel A, Bach J F, Tournier-Lasserve E
Abstract excerpt
Cavernous angiomas are vascular malformations mostly located in the central nervous system and characterized by enlarged capillary cavities without intervening brain parenchyma. Clinical symptoms include seizures, haemorrhage and focal neurological deficits. Cavernous angiomas prevalence is close...
Topics
- Amino Acid Sequence
- Central Nervous System Neoplasms
- DNA Mutational Analysis
- Family Health
- Female
- Hemangioma, Cavernous
- Humans
- KRIT1 Protein
- Male
- Microtubule-Associated Proteins
- Molecular Sequence Data
- Mutagenesis, Insertional
- Mutation
- Pedigree
- Physical Chromosome Mapping