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Article

Genetic and biochemical findings in Chinese children with Leigh syndrome.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Nov 2013

Ma Yan-Yan, Wu Tong-Fei, Liu Yu-Peng, Wang Qiao, Song Jin-Qing, Li Xi-Yuan, Shi Xiu-Yu, Zhang Wei-Na, Zhao Meng, Hu Lin-Yan, Yang Yan-Ling, Zou Li-Ping

Abstract excerpt

This study investigated the genetic and enzymological features of Leigh syndrome due to respiratory chain complex deficiency in Chinese patients. The clinical features of 75 patients were recorded. Mitochondrial respiratory chain enzyme activities were determined via spectrophotometry. Mitochondrial gene sequence analysis was performed in 23 patients. Five core pedigrees were investigated via restriction fragment...

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Identifiers

PMID: 23953430
DOI: 10.1016/j.jocn.2013.03.034

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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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