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Article

[Clinical and genetic analysis of a family with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jan 2012

Huang Qiong-hui, Xiao Jiang-xi, Wang Jing-min, Jiang Yu-wu, Wu Ye

Abstract excerpt

OBJECTIVE: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare autosomal recessive disease. Affected individuals are invariably compound heterozygous for two mutations in DARS2. No reports of LBSL patients have been published in the mainland of China. The aim of this study was to explore the clinical and genetic features of a family with LBSL, which may...

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Identifiers

PMID: 22456076

Genes

DARS2

Variants

Provenance

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