期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 55, 期 10, 页码 535-540出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2012.06.006
关键词
Pyruvate dehydrogenase deficiency; PDHX gene; New mutation
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. (C) 2012 Elsevier Masson SAS. All rights reserved.
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