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Article

[Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Apr 2015

Zhu Li-Na, Ma Xiu-Wei, Zheng Tian, He Fang, Feng Zhi-Chun

Abstract excerpt

The clinical data of a patient with megalencephalic leukoencephalopathy (MLC) with subcortical cysts and her parents were collected. MLC1 gene mutation was detected by polymerase chain reaction and direct DNA sequencing. The patient presented with motor developmental delay and giant skull, and brain magnetic resonance imaging showed diffuse white matter swelling accompanied by subcortical cysts in bilateral...

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Identifiers

PMID: 25919557

Genes

MLC1

Variants

Provenance

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