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Article

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

PloS one - 1 Jan 2014

Miller David K, Menezes Minal J, Simons Cas, Riley Lisa G, Cooper Sandra T, Grimmond Sean M, Thorburn David R, Christodoulou John, Taft Ryan J

Abstract excerpt

Leigh syndrome (LS) is a rare progressive multi-system neurodegenerative disorder, the genetics of which is frequently difficult to resolve. Rapid determination of the genetic etiology of LS in a 5-year-old girl facilitated inclusion in Edison Pharmaceutical's phase 2B clinical trial of EPI-743. SNP-arrays and high-coverage whole exome sequencing were performed on the proband, both parents and three unaffected...

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Share to DNA, Mitochondrial
Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25118196
DOI: 10.1371/journal.pone.0104879
PMCID: PMC4130626

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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