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Article

A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.

Journal of inherited metabolic disease - 1 Dec 2008

Anderson S L, Chung W K, Frezzo J, Papp J C, Ekstein J, DiMauro S, Rubin B Y

Abstract excerpt

Leigh syndrome is a neurodegenerative disorder of infancy or childhood generally due to mutations in nuclear or mitochondrial genes involved in mitochondrial energy metabolism. We performed linkage analysis in an Ashkenazi Jewish (AJ) family without consanguinity with three affected children. Linkage to microsatellite markers D5S1969 and D5S407 led to evaluation of the complex I gene NDUFS4, in which we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19107570
DOI: 10.1007/s10545-008-1049-9

Genes

NDUFS4

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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