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Article

Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.

Journal of molecular neuroscience : MN - 1 Oct 2010

Pileggi Silvana, Buscone Serena, Ricci Claudia, Patrosso Maria Cristina, Marocchi Alessandro, Brunori Paola, Battistini Stefania, Penco Silvana

Abstract excerpt

Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in seizures, haemorrhage, recurrent headaches and focal neurologic deficit. CCMs can occur as an autosomal dominant trait with incomplete penetrance and a wide phenotypic variability. The genes responsible for this disease are KRIT1/CCM1 on chromosome 7q21.2, MGC4607/CCM2 on chromosome 7p15-p13...

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Identifiers

PMID: 20419355
DOI: 10.1007/s12031-010-9360-y

Genes

CCM2
PDCD10

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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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Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.PMID 20419355Read ↗

Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation.Semantic proximity Read ↗

Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations.Semantic proximity Read ↗

PDCD10 gene mutations in multiple cerebral cavernous malformations.Semantic proximity Read ↗

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.Semantic proximity Read ↗

Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.Semantic proximity Read ↗

Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations.Semantic proximity Read ↗

Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 PenetranceSemantic proximity Read ↗

A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas.Semantic proximity Read ↗

Cerebral cavernous malformation: new molecular and clinical insightsSemantic proximity Read ↗

Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.Semantic proximity Read ↗

CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study.Semantic proximity Read ↗

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.Semantic proximity Read ↗

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