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Article

Megalencephalic leukoencephalopathy with cysts without MLC1 defect.

Annals of neurology - 1 Jun 2010

van der Knaap Marjo S, Lai Vincent, Köhler Wolfgang, Salih Mustafa A, Fonseca Maria-José, Benke Tim A, Wilson Callum, Jayakar Parul, Aine Marjo-riitta, Dom Lina, Lynch Bryan, Kálmánchey Rozalia, Pietsch Peter, Errami Ab, Scheper Gert C

Abstract excerpt

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues. Approximately 80% of MLC patients have mutations in MLC1. We report 16 MLC...

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Source

Identifiers

PMID: 20517947
DOI: 10.1002/ana.21980

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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