Leukoencephalopathy with extensive brain calcifications and parenchymal cysts in a child
β Scribed by Sanaa El Mouhadi; Latifa Chat; Rachida Dafiri
- Book ID
- 119235118
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 774 KB
- Volume
- 79
- Category
- Article
- ISSN
- 1571-4675
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The human MLC1 gene (also known as KIAA0027 and WKL1) and its murine orthologue (Mlc1) encode a putative transmembrane protein expressed primarily in brain. Recessive mutations within human MLC1 cause megalencephalic leukoencephalopathy with subcortical cysts (MLC), whereas a missense mutation resul