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Article

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

Molecular genetics and metabolism - 1 Aug 2008

Brautbar Ariel, Wang Jing, Abdenur Jose E, Chang Richard C, Thomas Janet A, Grebe Theresa A, Lim Cynthia, Weng Shao-Wen, Graham Brett H, Wong Lee-Jun

Abstract excerpt

The mitochondrial 13513G>A (D393N) mutation in the ND5 subunit of the respiratory chain complex I was initially described in association with MELAS syndrome. Recent observations have linked this mutation to Leigh disease. We screened for the 13513G>A mutation in a cohort of 265 patients with Leigh and Leigh-like disease. The mutation was found in a total of 5 patients. An additional patient who had clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18495510
DOI: 10.1016/j.ymgme.2008.04.004

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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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