Article
Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies.
Nature - 16 May 1991
Hess J F, Parisi M A, Bennett J L, Clayton D A
Abstract excerpt
Defects in mitochondrial DNA (mtDNA) are associated with several different human diseases, including the mitochondrial encephalomyopathies. The mutations include deletions but also duplications and point mutations. Individuals with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) carry a common A-to-G substitution in a highly conserved portion of the gene for transfer...
Topics
- Base Sequence
- Blotting, Western
- Brain Diseases
- Chromosome Mapping
- DNA Mutational Analysis
- DNA, Mitochondrial
- Humans
- In Vitro Techniques
- Mitochondria, Muscle
- Molecular Sequence Data
- Mutation