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Article

Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration.

BMJ case reports - 21 Sept 2015

Dash Prafulla Kumar, Raj Dinesh Harvey, Sahu Hrushikesh

Abstract excerpt

Megalencephalic leucoencephalopathy with subcortical cysts (MLC) is a diffuse subcortical leucoencephalopathy with cystic white matter degeneration. Patients with MLC present with macrocephaly at the first year of life, and neurological abnormalities such as motor deterioration, ataxia, spasticity and cognitive defects progress later. MLC is caused by mutations in the gene MLC1, which encodes a novel protein,...

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Identifiers

PMID: 26392452
DOI: 10.1136/bcr-2015-211921
PMCID: PMC4577658

Genes

MLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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