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Article

Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.

Stroke - 1 Apr 2005

Gault Judith, Shenkar Robert, Recksiek Peter, Awad Issam A

Abstract excerpt

BACKGROUND AND PURPOSE: Cerebral cavernous malformations (CCMs) are focal dysmorphic blood vessel anomalies that predispose patients to hemorrhagic stroke and epilepsy. CCMs are sporadic or inherited and 3 genes (CCM1, CCM2, and CCM3) have been identified. However, the role of somatic mutation in CCM genesis has been disputed. The hypothesis that somatic mutations contribute to CCM lesion genesis is tested....

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Identifiers

PMID: 15718512
DOI: 10.1161/01.STR.0000157586.20479.fd

Genes

CCM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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