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Article

Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population.

The Turkish journal of pediatrics - 1 Jan 2000

Yiş Uluç, Scheper Gert C, Uran Nedret, Unalp Aycan, Cakmakçi Handan, Hiz-Kurul Semra, Dirik Eray, van der Knaap Marjo S

Abstract excerpt

Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy that is characterized by macrocephaly and a slowly progressive clinical course. It is one of the most commonly reported leukoencephalopathies in Turkey. Mutations in the MLC1 gene are the main cause of the disease. We report two patients with megalencephalic leukoencephalopathy with subcortical cysts with confirmed mutations in...

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Identifiers

PMID: 20560255

Genes

MLC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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