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Article

Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.

Molecular genetics and metabolism - 1 Feb 2009

Wang Jing, Brautbar Ariel, Chan Alicia K, Dzwiniel Tara, Li Fang-Yuan, Waters Paula J, Graham Brett H, Wong Lee-Jun

Abstract excerpt

Mitochondrial cytopathies are characterized by a large variability of clinical phenotypes and severity. The 14487T>C mutation in mtDNA has been recently described to be associated with Leigh syndrome. The 12297T>C mutation has been described in isolated dilated cardiomyopathy patients. Here, we report a family with multiple members who harbor both mutations, with only a few individuals who are affected with Leigh...

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Source

Identifiers

PMID: 19062322
DOI: 10.1016/j.ymgme.2008.10.006

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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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