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Article

Novel mitochondrial C15620A variant may modulate the phenotype of mitochondrial G11778A mutation in a Chinese family with Leigh syndrome.

Neuromolecular medicine - 1 Mar 2014

Ji Kunqian, Zheng Jinfan, Sun Baoying, Liu Fuchen, Shan Jingli, Li Duoling, Luo Yue-Bei, Zhao Yuying, Yan Chuanzhu

Abstract excerpt

We report a case of 3-year-old boy who presented with Leigh syndrome but carried a mitochondrial G11778A mutation in the fourth subunit of the NADH dehydrogenase gene (MTND4). Additional to G11778A mutation, a novel C15620A variant was detected, which resulted in the conversion from leucine to is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Optic Atrophy, Hereditary, Leber

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Source

Identifiers

PMID: 24062162
DOI: 10.1007/s12017-013-8264-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24062162-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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