Article
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.
Human molecular genetics - 1 Mar 2009
Akers Amy L, Johnson Eric, Steinberg Gary K, Zabramski Joseph M, Marchuk Douglas A
Abstract excerpt
Cerebral cavernous malformations (CCMs) are vascular anomalies of the central nervous system, comprising dilated blood-filled capillaries lacking structural support. The lesions are prone to rupture, resulting in seizures or hemorrhagic stroke. CCM can occur sporadically, manifesting as solitary lesions, but also in families, where multiple lesions generally occur. Familial cases follow autosomal-dominant...
Topics
- Alleles
- Amino Acid Sequence
- Apoptosis Regulatory Proteins
- Base Sequence
- Carrier Proteins
- Cohort Studies
- Germ-Line Mutation
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein