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Article

Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.

European journal of human genetics : EJHG - 1 May 2002

Rustin Pierre, Munnich Arnold, Rötig Agnès

Abstract excerpt

Inherited defects of the mitochondrial succinate dehydrogenase (SDH) in humans are associated with striking variable clinical presentations ranging from early-onset devastating encephalomyopathy to tumour susceptibility in adulthood, or optic atrophy in the elderly. Although different genes encod...

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Identifiers

PMID: 12082502
DOI: 10.1038/sj.ejhg.5200793

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12082502-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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