Article
A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.
American journal of medical genetics. Part A - 1 Apr 2022
Ain Ul Batool Syeda, Almatrafi Ahmad, Fadhli Fatima, Alluqmani Majed, Sadia, Ali Ghazanfar, Basit Sulman
Abstract excerpt
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by epileptic seizures, macrocephaly, and vacuolization of myelin and astrocyte. The magnetic resonance imaging of the brain of MLC patients shows diffuse white-matter anomalies and the occurrence of subcortical cysts. MLC features have been observed in individuals having mutations in the MLC1 or HEPACAM...
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