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Article

[A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 May 2009

Wei Xiao-Qiong, Kong Qing-Peng, Zhang Yao, Yang Yan-Ling, Chang Xing-Zhi, Qi Yu, Qi Zhao-Yue, Xiao Jiang-Xi, Qin Jiong, Wu Xi-Ru

Abstract excerpt

Leigh syndrome is a genetically heterogeneous disease caused by defects in enzymes involved in aerobic energy metabolism and the Krebs', cycle. Mitonchondrial complex I deficiency is a main cause of Leigh syndrome. In this study, a Chinese child with Leigh syndrome caused by 13513G>A mutation was reported. The proband was the first child of his parents. The previously healthy boy presented with generalized...

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PMID: 19470250

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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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