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Article

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.

Gene - 1 Mar 2013

Marin Samantha E, Mesterman Ronit, Robinson Brian, Rodenburg Richard J, Smeitink Jan, Tarnopolsky Mark A

Abstract excerpt

Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional mitochondrial energy metabolism. Mutations in genes encoding for subunits of the respiratory chain or assembly factors of respiratory chain complexes are often documented in LS cases. Nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase (complex I) enzyme...

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Source

Identifiers

PMID: 23266820
DOI: 10.1016/j.gene.2012.12.024

Genes

NDUFV1
NDUFS2

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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