Article
Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.
Journal of inherited metabolic disease - 1 Jan 1995
Ito M, Naito E, Yokota I, Takeda E, Matsuda J, Hirose M, Sejima H, Aiba H, Hojo H, Kuroda Y
Abstract excerpt
A new 18 bp insertion mutation in the gene for the alpha subunit of pyruvate dehydrogenase (E1 alpha) was found in a female patient with congenital lactic acidaemia. Cultured skin fibroblasts and Epstein-Barr virus-transformed lymphoblastoid cells from this patient showed decreased and normal pyruvate dehydrogenase complex (PDHC) activity, respectively. This 18 bp insertion was a de novo mutation, because it was...
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