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Article

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

Journal of medical genetics - 1 Mar 2014

Jackson Christopher Benjamin, Nuoffer Jean-Marc, Hahn Dagmar, Prokisch Holger, Haberberger Birgit, Gautschi Matthias, Häberli Annemarie, Gallati Sabina, Schaller André

Abstract excerpt

BACKGROUND: Defects of the mitochondrial respiratory chain complex II (succinate dehydrogenase (SDH) complex) are extremely rare. Of the four nuclear encoded proteins composing complex II, only mutations in the 70 kDa flavoprotein (SDHA) and the recently identified complex II assembly factor (SDHAF1) have been found to be causative for mitochondrial respiratory chain diseases. Mutations in the other three...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24367056
DOI: 10.1136/jmedgenet-2013-101932

Genes

SDHD
SDHB
SDHA
SDHAF1
SDHAF2
SDHC

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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