Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

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• 作者：Matthias Rath ; Stefanie Spiegler ; Neetika Nath ; Konrad Schwefel ; Nataliya Di Donato ; Johannes Gerber ; G. Christoph Korenke ; Yorck Hellenbroich ; Ute Hehr ; Stephanie Gross ; Ulrich Sure ; Barbara Zoll ; Eberhard Gilberg ; Lars Kaderali and Ute Felbor
• 刊名：Molecular Genetics & Genomic Medicine
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：5
• 期：1
• 页码：21-27
• 全文大小：1156K
• ISSN：2324-9269

文摘

Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can be found in sporadic or autosomal dominantly inherited forms and manifest with headaches, seizures, and hemorrhagic stroke. The precise proportion of de novo mutations in the CCM1, CCM2, and CCM3 genes remains unknown.