Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit
Absence of the astrocyte-specific membrane protein MLC1 is responsible for megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare type of leukodystrophy characterized by early-onset macrocephaly and progressive white matter vacuolation that lead to ataxia, spasticity, and cognitive...
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Autores principales: | Alice Gilbert, Xabier Elorza-Vidal, Armelle Rancillac, Audrey Chagnot, Mervé Yetim, Vincent Hingot, Thomas Deffieux, Anne-Cécile Boulay, Rodrigo Alvear-Perez, Salvatore Cisternino, Sabrina Martin, Sonia Taïb, Aontoinette Gelot, Virginie Mignon, Maryline Favier, Isabelle Brunet, Xavier Declèves, Mickael Tanter, Raul Estevez, Denis Vivien, Bruno Saubaméa, Martine Cohen-Salmon |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
eLife Sciences Publications Ltd
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/8c131fd67c234cbf982e2d29b237469b |
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