Article
Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts.
Genetic testing and molecular biomarkers - 1 Apr 2010
Scheper Gert C, van Berkel Carola G M, Leisle Lilia, de Groot Koen E, Errami Ab, Jentsch Thomas J, Van der Knaap Marjo S
Abstract excerpt
Mutations in the gene MLC1 are found in approximately 80% of the patients with the inherited childhood white matter disorder megalencephalic leukoencephalopathy with subcortical cysts (MLC). Genetic linkage studies have not led to the identification of another disease gene. We questioned whether mutations in CLCN2, coding for the chloride channel protein 2 (ClC-2), are involved in MLC. Mice lacking this protein...
Topics
- Alternative Splicing
- Animals
- CLC-2 Chloride Channels
- Chloride Channels
- DNA, Complementary
- Dementia, Vascular
- Female
- Genetic Predisposition to Disease
- Humans
- In Vitro Techniques