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Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation.
Xue Wang
1 ,
Xue-Wu Liu ,
Nora Lee ,
Qi-Ji Liu ,
Wen-Na Li ,
Tao Han ,
Kun-Kun Wei ,
Shan Qiao ,
Zhao-Fu Chi
2013
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Abstract
Familial cerebral cavernous malformations (CCMs), characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified. We report a Chinese family with CCMs and intend to explore clinical, pathological, magnetic resonance imaging (MRI) features and pathogenic gene mutation of this family.