Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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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 leukoencephalopathy. Our goal was to identify SDHAF1 mutations in...
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Full title
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
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TN_cdi_doaj_primary_oai_doaj_org_article_9d6398901a1e42bab32f3f924dd49c01
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9d6398901a1e42bab32f3f924dd49c01
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-7-69
