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Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.

Human genetics - 1 Aug 2002

Ben-Zeev Bruria, Levy-Nissenbaum Etgar, Lahat Hadas, Anikster Yair, Shinar Yael, Brand Nathan, Gross-Tzur Varda, MacGregor Daune, Sidi Roy, Kleta Robert, Frydman Moshe, Pras Elon

Abstract excerpt

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a progressive inherited neurological disorder characterized by macrocephaly, deterioration in motor functions and cerebellar ataxia. In Israel the disease is found in an increased frequency among Libyan Jews. The disease is caused by mutations in the MLC1 gene, which encodes a putative CNS membrane transporter. We describe three novel mutations...

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PMID: 12189496
DOI: 10.1007/s00439-002-0770-y

Genes

MLC1

Variants

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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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