ArticleJournal of molecular neuroscience : MN2019
Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family.
Article in Journal of molecular neuroscience : MN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.Frontiers in neuroscience · 2023Article
- Article
- Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.Medicine · 2020Article
- A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation.Frontiers in neurology · 2020Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Cerebral cavernous malformation (CCM) is a congenital vascular anomaly that predominantly involves the central nervous system (CNS). CCM occurs in either a sporadic or an inherited form; the latter is called familial cerebral cavernous malformation (FCCM). FCCM has an autosomal dominant transmission with incomplete penetrance and variable clinical expression that is associated with germline mutations in the CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes. Herein, we disclose two novel heterozygous mutations in the CCM2 gene in a Chinese family: a deletion mutation (c.55C>T; p. R19X, 426) in exon 2 and a mutation (c.*18G>A) in the noncoding region of exon 10. Our findings provide new CCM2 gene mutation profiles and further evidence for phenotypic heterogeneity.
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Registered trials
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