Article
In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.
Molecular and cellular biology - 1 May 1995
Masucci J P, Davidson M, Koga Y, Schon E A, King M P
Abstract excerpt
Cytoplasts from patients with myoclonus epilepsy with ragged-red fibers harboring a pathogenic point mutation at either nucleotide 8344 or 8356 in the human mitochondrial tRNA(Lys) gene were fused with human cells lacking endogenous mitochondrial DNA (mtDNA). For each mutation, cytoplasmic hybrid...
Topics
- Cell Line
- Chromosome Mapping
- DNA, Mitochondrial
- Genotype
- Humans
- Hybrid Cells
- MERRF Syndrome
- Mutation
- Oxygen Consumption
- Phenotype
- Protein Biosynthesis
- RNA Processing, Post-Transcriptional
- RNA, Messenger
- RNA, Transfer, Lys