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pubmed-article:15037685pubmed:abstractTextA 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 (Agarwals) in India. This disorder is very similar to megalencephalic leukoencephalopathy with subcortical cysts (MLC), a newly characterized leukodystrophy whose molecular basis was recently shown to be mutations in a gene (KIAA0027) that has been renamed MLC1.lld:pubmed
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pubmed-article:15037685pubmed:articleTitleIndian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.lld:pubmed
pubmed-article:15037685pubmed:affiliationResearch Center for Genetic Medicine, Children's National Medical Center, Washington, DC, USA. rgorospe@cnmresarch.orglld:pubmed
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