Associated Papers
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Passchier EMJ et al.
Frontiers in Genetics, 2024
38487253 (PubMed )
Supplement: Table1.pdf
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
36556183 (PubMed )
Supplement: jpm-12-01962-s001.zip › jpm-1983119-supplementary.pdf
A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China.
Dai CL et al.
Clinical Case Reports, 2017
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
Duarri A et al.
Human Molecular Genetics, 2008
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.
Gorospe JR et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater PA et al.
American Journal of Human Genetics, 2001
Novel mutations of the MLC1 gene in Turkish patients.
Yüzbaşioğlu A et al.
European Journal of Medical Genetics, 0
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