Article
Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.
Annals of neurology - 1 Jul 1994
Fujii T, Van Coster R N, Old S E, Medori R, Winter S, Gubits R M, Matthews P M, Brown R M, Brown G K, Dahl H H
Abstract excerpt
Two half-brothers and their mother had symptomatic pyruvate dehydrogenase complex deficiency. The infants had severe congenital lactic acidosis, seizures, and apneic spells and died at the ages 3 and 4 months. The mother was less symptomatic with mental retardation, truncal ataxia, and dysarthria...
Topics
- Base Sequence
- Dosage Compensation, Genetic
- Family
- Female
- Heterozygote
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Pyruvate Dehydrogenase Complex Deficiency Disease