Article
Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency.
Pediatric neurology - 1 May 1996
Fujii T, Garcia Alvarez M B, Sheu K F, Kranz-Eble P J, De Vivo D C
Abstract excerpt
We report 7 patients with pyruvate dehydrogenase (PDH) deficiency caused by mutations of the PDH-E1 alpha subunit. Each patient had a different mutation; 4 with duplicate insertions, 1 with a deletion of tandem repeat, and 2 with point mutations. Five of the mutations were novel, thus confirming...
Topics
- Adolescent
- Base Sequence
- Blotting, Northern
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Peptide Fragments
- Protein Biosynthesis
- Pyruvate Dehydrogenase Complex Deficiency Disease
- Transcription, Genetic