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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Detalles Bibliográficos
Autores principales: Ohlenbusch, Andreas, Edvardson, Simon, Skorpen, Johannes, Bjornstad, Alf, Saada, Ann, Elpeleg, Orly, Gärtner, Jutta, Brockmann, Knut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492161/
https://www.ncbi.nlm.nih.gov/pubmed/22995659
http://dx.doi.org/10.1186/1750-1172-7-69

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492161/
https://www.ncbi.nlm.nih.gov/pubmed/22995659
http://dx.doi.org/10.1186/1750-1172-7-69

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