Leukoencephalopathy with accumulated succinate is indicative of <it>SDHAF1</it> related complex II deficiency

Leukoencephalopathy with accumulated succinate is indicative of <it>SDHAF1</it> related complex II deficiency

<p>Abstract</p> <p>Background</p> <p>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 <it>SDHAF1,</it> the gene encoding...

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Bibliographic Details
Main Authors: Ohlenbusch Andreas, Edvardson Simon, Skorpen Johannes, Bjornstad Alf, Saada Ann, Elpeleg Orly, Gärtner Jutta, Brockmann Knut
Format: Article
Language:English
Published: BMC 2012-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Succinate dehydrogenase
Leukoencephalopathy
SDHAF1
Leigh syndrome
Complex II deficiency
Assembly factor
Online Access:http://www.ojrd.com/content/7/1/69

Internet

http://www.ojrd.com/content/7/1/69

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