Article
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.
Human mutation - 1 Mar 2006
Montagna Giorgia, Teijido Oscar, Eymard-Pierre Eleonore, Muraki Koutarou, Cohen Bruce, Loizzo Annalivia, Grosso Pietro, Tedeschi Gioacchino, Palacín Manuel, Boespflug-Tanguy Odile, Bertini Enrico, Santorelli Filippo M, Estévez Raúl
Abstract excerpt
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.Ala275Asn, and p.Leu310_311insLeu) of which nine were novel. In one patient we did not detect mutations. Using a...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Animals
- Base Sequence
- Cell Membrane
- Child
- Child, Preschool
- Female
- Gene Expression Regulation