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Article

Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.

Neurology - 23 Mar 2004

Gorospe J R, Singhal B S, Kainu T, Wu F, Stephan D, Trent J, Hoffman E P, Naidu S

Abstract excerpt

BACKGROUND: A distinct clinical syndrome characterized by megalencephaly, mild to moderate cognitive decline, slowly progressive spasticity, ataxia, occasional seizures, and extensive white matter changes with temporal cysts by imaging studies has been described in a particular ethnic group (Agar...

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Source

Identifiers

PMID: 15037685
DOI: 10.1212/01.wnl.0000115106.88813.5b

Genes

MLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15037685-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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