Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2814061 | European Journal of Medical Genetics | 2012 | 6 Pages |
Abstract
Pyruvate dehydrogenase deficiency is one of the genetic defects of mitochondrial energy metabolism. Clinical features are heterogeneous, ranging from fatal lactic acidosis in the newborn period to chronic neurodegenerative abnormalities. Most cases have mutations in the gene for the E1alpha subunit of the pyruvate dehydrogenase complex. Primary defects of the E3 binding protein component of the pyruvate dehydrogenase complex are rarier. We describe two unrelated Moroccan patients with the same new mutation c.1182 + 2T > C in the E3 binding protein gene PDHX and different clinical forms.
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Authors
Mariam Tajir, Jean Baptiste Arnoux, Audrey Boutron, Siham Chafai Elalaoui, Pascale De Lonlay, Abdelaziz Sefiani, Michèle Brivet,