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Article

Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.

Molecular and cellular neurosciences - 1 Sept 2013

Petrini Stefania, Minnone Gaetana, Coccetti Marianna, Frank Claudio, Aiello Chiara, Cutarelli Alessandro, Ambrosini Elena, Lanciotti Angela, Brignone Maria Stefania, D'Oria Valentina, Strippoli Raffaele, De Benedetti Fabrizio, Bertini Enrico, Bracci-Laudiero Luisa

Abstract excerpt

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare congenital leukodystrophy characterized by macrocephaly, subcortical cysts and demyelination. The majority of patients harbor mutations in the MLC1 gene encoding for a membrane protein with largely unknown function. Mutati...

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Source

Identifiers

PMID: 23851226
DOI: 10.1016/j.mcn.2013.07.001

Genes

MLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23851226-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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