Article
Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas.
Muscle & nerve. Supplement - 1 Jan 1995
Larsson N G, Tulinius M H, Holme E, Oldfors A
Abstract excerpt
Myoclonus epilepsy and ragged-red fibers syndrome (MERRF) is caused by a heteroplasmic mutation at nucleotide 8344 (A8344G) of the tRNA(Lys) gene of mitochondrial DNA (mtDNA). This mutation impairs mitochondrial protein synthesis and causes a respiratory chain dysfunction. The risk for transmission of the A8344G mutation from mother to child is dependent on the levels of mutated mtDNA in the mother and above a...
Topics
- Child
- DNA, Mitochondrial
- Female
- Heterozygote
- Humans
- Lipoma
- MERRF Syndrome
- Mothers
- Mutation
- Phosphorylation
- RNA, Transfer, Lys