Article
Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.
Journal of the neurological sciences - 15 Apr 2002
Chen Dong-Hui, Lipe Hillary P, Qin Zhen, Bird Thomas D
Abstract excerpt
Familial cerebral cavernous malformation (CCM) is an autosomal dominant disorder producing vascular anomalies throughout the central nervous system associated with seizures and hemorrhagic stroke. Linkage analysis has shown evidence for at least three genetic loci underlying this disorder with a...
Topics
- Adult
- Aged
- Brain
- Cerebral Arteries
- Child
- China
- Chromosomes, Human, Pair 7
- Codon, Nonsense
- DNA Mutational Analysis
- Exons
- Female
- Genetic Variation
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Male
- Methyltransferases
- Microtubule-Associated Proteins