Article
Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.
Human molecular genetics - 8 May 2020
Elorza-Vidal Xabier, Xicoy-Espaulella Efren, Pla-Casillanis Adrià, Alonso-Gardón Marta, Gaitán-Peñas Héctor, Engel-Pizcueta Carolyn, Fernández-Recio Juan, Estévez Raúl
Abstract excerpt
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a type of leukodystrophy characterized by white matter edema, and it is caused mainly by recessive mutations in MLC1 and GLIALCAM genes. These variants are called MLC1 and MLC2A with both types of patients sharing the same clinical phenotype. In addition, dominant mutations in GLIALCAM have also been identified in a subtype of MLC patients with a...
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