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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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| Hauptverfasser: | , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2012
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| Schlagworte: | |
| Online Zugang: | 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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