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

Ul Batool, SA; Almatrafi, A; Fadhli, F; Alluqmani, M; Sadia; Ali, G; Basit, S

Basit, S (通讯作者)，Taibah Univ, Ctr Genet & Inherited Dis, Medina, Saudi Arabia.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (4): 1075

Abstract

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by epileptic seizures, macrocephaly, a......

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