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Article

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Neurology - 17 Apr 2018

Hamilton Eline M C, Tekturk Pinar, Cialdella Fia, van Rappard Diane F, Wolf Nicole I, Yalcinkaya Cengiz, Çetinçelik Ümran, Rajaee Ahmad, Kariminejad Ariana, Paprocka Justyna, Yapici Zuhal, Bošnjak Vlatka Mejaški, van der Knaap Marjo S

Abstract excerpt

OBJECTIVE: To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features. METHODS: We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC....

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Identifiers

PMID: 29661901
DOI: 10.1212/WNL.0000000000005334
PMCID: PMC5902784

Genes

MLC1

Provenance

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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