Article
[Identification of a novel inheritable CCM1 gene mutation of 671del AT in a Chinese family with cerebral cavernous malformation].
Zhonghua yi xue za zhi - 25 Sept 2003
Mao Ying, Zhao Yao, Zhou Liang-fu, Huang Chuan-xin, Shou Xue-fei, Gong Jia-lei
Abstract excerpt
OBJECTIVE: To investigate the hereditary characters of familial cerebral cavernous malformation (FCCM) and the novel gene mutation in a Chinese family. METHODS: Head MRI examination and clinical neurological check were performed on a Chinese family with one proband of FCCM, female, 27 years old,...
Topics
- Adolescent
- Adult
- Aged
- Central Nervous System Neoplasms
- Child
- Child, Preschool
- Female
- Gene Deletion
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Magnetic Resonance Imaging