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Article

Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.

American journal of medical genetics. Part A - 1 Aug 2013

Tarnopolsky Mark, Meaney Brandon, Robinson Brian, Sheldon Katherine, Boles Richard G

Abstract excerpt

We describe a case of severe infantile-onset complex I deficiency in association with an apparent de novo near-homoplasmic mutation (m.14487T>C) in the mitochondrial ND6 gene, which was previously associated with Leigh syndrome and other neurological disorders. The mutation was near-homoplasmic in muscle by NextGen sequencing (99.4% mutant), homoplasmic in muscle by Sanger sequencing, and it was associated with a...

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Source

Identifiers

PMID: 23813926
DOI: 10.1002/ajmg.a.36000

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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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