Article
Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.
Pediatric research - 1 Dec 1994
De Meirleir L, Lissens W, Benelli C, Ponsot G, Desguerre I, Marsac C, Rodriguez D, Saudubray J M, Poggi F, Liebaers I
Abstract excerpt
Pyruvate dehydrogenase (PDH)-E1 alpha deficiency has recently been studied at the molecular-genetic level. The gene is situated on the X chromosome. We report on an unusual mutation in a familial E1 alpha deficiency. In fibroblasts, PDH deficiency was diagnosed in a young infant presenting with L...
Topics
- Base Sequence
- Central Nervous System Diseases
- Exons
- Female
- Humans
- Infant
- Leigh Disease
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Pyruvate Dehydrogenase (Lipoamide)
- Pyruvate Dehydrogenase Complex
- Pyruvate Dehydrogenase Complex Deficiency Disease