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Published in 2021 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddab155
Abstract: Abstract Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a type of vacuolating leukodystrophy, which is mainly caused by mutations in MLC1 or GLIALCAM. The two MLC-causing genes encode for membrane proteins of yet unknown function…
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Keywords:
megalencephalic leukoencephalopathy;
mlc proteins;
glialcam interactome;
protein coupled ... See more keywords
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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23105528
Abstract: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of vacuolating leukodystrophy (white matter disorder), which is mainly caused by defects in MLC1 or glial cell adhesion molecule (GlialCAM) proteins. In addition, autoantibodies to…
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Keywords:
subcortical cysts;
leukoencephalopathy subcortical;
receptors megalencephalic;
megalencephalic leukoencephalopathy ... See more keywords