P279 Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in Turkish population
✍ Scribed by U. Yiş; G.C. Scheper; N. Uran; A. Ünalp; H. Çakmakçı; S. Hız Kurul; E. Dirik; M.S. van der Knaap
- Book ID
- 114360147
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 43 KB
- Volume
- 13
- Category
- Article
- ISSN
- 1090-3798
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## Communicated by Christopher Mathew Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive cerebral white matter disorder in children. This disease is histopathologically characterized by myelin splitting and intramyelinic vacuole formation. MLC is caused by m
Nine new unrelated patients presenting vacuolating myelinopathy with subcortical cysts were identified and analyzed for variations in the MLC1 gene. We detected 12 mutations (p.Leu37fs, p.Met80Val, p.Leu83Phe, p.Pro92Ser, p.Ser93Leu, p.Ile108fs, p.Gly130Arg, p.Cys171fs, p.Glu202Lys, p.Ser269Tyr, p.A
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