Article
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
Human genetics - 1 Jul 2004
Brown Ruth M, Head Rosemary A, Boubriak Ivan I, Leonard James V, Thomas Neil H, Brown Garry K
Abstract excerpt
We describe two unrelated patients with pyruvate dehydrogenase (PDH) deficiency attributable to mutations in the gene encoding the E1beta subunit of the complex. This is a previously unrecognised form of PDH deficiency, which most commonly results from mutations in the X-linked gene for the E1alpha subunit. Both patients had reduced immunoreactive E1beta protein and both had missense mutations in the E1beta gene....
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