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Article

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.

Neurology - 26 Aug 2003

Patrono C, Di Giacinto G, Eymard-Pierre E, Santorelli F M, Rodriguez D, De Stefano N, Federico A, Gatti R, Benigno V, Megarbané A, Tabarki B, Boespflug-Tanguy O, Bertini E

Abstract excerpt

Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephalic leukoencephalopathy and subcortical cysts (MLC) syndrome. Marked clinical intrafamilial and interfamilial variability in mutation-proven cases was found. A broad spectrum of pathogenetic mutatio...

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Source

Identifiers

PMID: 12939431
DOI: 10.1212/01.wnl.0000076184.21183.ca

Genes

MLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12939431-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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