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Article

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2015

Cameron Jessie M, MacKay Nevena, Feigenbaum Annette, Tarnopolsky Mark, Blaser Susan, Robinson Brian H, Schulze Andreas

Abstract excerpt

BACKGROUND: Two siblings with hypertrophic cardiomyopathy and brain atrophy were diagnosed with Complex I deficiency based on low enzyme activity in muscle and high lactate/pyruvate ratio in fibroblasts. METHODS: Whole exome sequencing results of fibroblast gDNA from one sibling was narrowed down to 190 SNPs or In/Dels in 185 candidate genes by selecting non-synonymous coding sequence base pair changes that were...

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Source

Identifiers

PMID: 26008862
DOI: 10.1016/j.ejpn.2015.05.002

Genes

NDUFV2

Variants

Provenance

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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Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.PMID 26008862Read ↗

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The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.Semantic proximity Read ↗

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.Semantic proximity Read ↗

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