Article
Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformations.
The International journal of neuroscience - 1 Dec 2016
Mao Cheng-Yuan, Yang Jing, Zhang Shu-Yu, Luo Hai-Yang, Song Bo, Liu Yu-Tao, Wu Jun, Sun Shi-Lei, Yang Zhi-Hua, Du Pan, Wang Yao-He, Shi Chang-He, Xu Yu-Ming
Abstract excerpt
PURPOSE: Cerebral cavernous malformations (CCMs) are vascular anomalies predominantly in the central nervous system but may include lesions in other tissues, such as the retina, skin and liver. The main clinical manifestations include seizures, hemorrhage, recurrent headaches and focal neurologic...
Topics
- Adult
- Asian People
- DNA Mutational Analysis
- Family Health
- Female
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Magnetic Resonance Imaging
- Male
- Mutation
- RNA, Messenger
- Young Adult