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Article

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.

Molecular genetics and metabolism - 1 Jul 2009

Leshinsky-Silver E, Lebre Anne-Sophie, Minai Limor, Saada Ann, Steffann Julie, Cohen Sarit, Rötig Agnes, Munnich Arnold, Lev Dorit, Lerman-Sagie Tally

Abstract excerpt

Complex I deficiency is a frequent cause of Leigh syndrome. We describe a non-consanguineous Ashkenazi-Sephardic Jewish patient with Leigh syndrome due to complex I deficiency. The clinical and neuroradiological presentation showed predominant brainstem involvement. Blue native polyacrylamide gel electrophoresis analysis revealed an impaired assembly of complex I. The patient was found to be compound heterozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19364667
DOI: 10.1016/j.ymgme.2009.03.002

Genes

NDUFS4

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.

Related research

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NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.PMID 19364667Read ↗

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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.Semantic proximity Read ↗

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