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[Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Aug 2012

Liu Yu-Peng, Ma Yan-Yan, Wu Tong-Fei, Wang Qiao, Kong Qing-Peng, Wei Xiao-Qiong, Zhang Yao, Song Jin-Qing, Chang Xing-Zhi, Zhang Yue-Hua, Xiao Jiang-Xi, Yang Yan-Ling

Abstract excerpt

This study reviews a case of mitochondrial respiratory chain complex I deficiency due to the 10191T>C mutation in mitochondrial ND3 gene. The previously healthy boy progressively presented with blepharoptosis, weakness, epilepsy and motor regression at age 6 years. Elevated blood lactate and pyruvate were observed. Brain magnetic resonance imaging showed symmetrical lesions in the basal ganglia. Leigh syndrome...

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PMID: 22898272

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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