Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

BACKGROUND: Deficiency of complex II (succinate dehydrogenase, SDH) represents a rare cause of mitochondrial disease and is associated with a wide range of clinical symptoms. Recently, mutations of SDHAF1, the gene encoding for the SDH assembly factor 1, were reported in SDH-defective infantile leuk...

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Huvudupphovsmän: Ohlenbusch, Andreas, Edvardson, Simon, Skorpen, Johannes, Bjornstad, Alf, Saada, Ann, Elpeleg, Orly, Gärtner, Jutta, Brockmann, Knut
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2012
Ämnen:
Research
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3492161/
https://ncbi.nlm.nih.gov/pubmed/22995659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-69
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