Article
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
Science (New York, N.Y.) - 29 Jan 1999
Nishino I, Spinazzola A, Hirano M
Abstract excerpt
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive human disease associated with multiple deletions of skeletal muscle mitochondrial DNA (mtDNA), which have been ascribed to a defect in communication between the nuclear and mitochondrial genomes. Examination o...
Topics
- Amino Acid Sequence
- Chromosomes, Human, Pair 22
- DNA, Mitochondrial
- Exons
- Gastrointestinal Motility
- Humans
- Introns
- Mitochondria, Muscle
- Mitochondrial Encephalomyopathies
- Molecular Sequence Data
- Mutation
- Mutation, Missense
- Neovascularization, Physiologic
- Polymorphism, Genetic
- RNA Splicing
- Sequence Deletion
- Thymidine
- Thymidine Phosphorylase