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Article

[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jun 2016

Deng Mei, Lin Wei-Xia, Guo Li, Zhang Zhan-Hui, Song Yuan-Zong

Abstract excerpt

The aim of this study was to investigate the clinical features and DGUOK gene mutations of an infant with mitochondrial DNA depletion syndrome (MDS). The patient (more than 7 months old) manifested as hepatosplenomegaly, abnormal liver function, nystagmus and psychomotor retardation. Genetic DNA was extracted from peripheral blood samples of the patient and her parents. Targeted Exome Sequencing was performed to...

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Identifiers

PMID: 27324545
PMCID: PMC7389075

Genes

DGUOK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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