Article
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
Human molecular genetics - 15 Sept 2009
Janssen Rolf J R J, Distelmaier Felix, Smeets Roel, Wijnhoven Tessa, Østergaard Elsebet, Jaspers Nicolaas G J, Raams Anja, Kemp Stephan, Rodenburg Richard J T, Willems Peter H M G, van den Heuvel Lambert P W J, Smeitink Jan A M, Nijtmans Leo G J
Abstract excerpt
Contiguous gene syndromes affecting the mitochondrial oxidative phosphorylation system have been rarely reported. Here, we describe a patient with apparent mitochondrial encephalomyopathy accompanied by several unusual features, including dysmorphism and hepatopathy, caused by a homozygous triple gene deletion on chromosome 5. The deletion encompassed the NDUFAF2, ERCC8 and ELOVL7 genes, encoding complex I...
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