Article
Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.
American journal of human genetics - 1 Mar 1993
Holme E, Larsson N G, Oldfors A, Tulinius M, Sahlin P, Stenman G
Abstract excerpt
We have investigated the morphology, cytogenetics, and the fraction of mtDNA with the tRNA(Lys) A-->G(8344) mutation in three lipomas in a carrier of this mutation. The son of the patient had myoclonus epilepsy and ragged-red fibers syndrome. The fraction of mtDNA with the tRNA(Lys) mutation vari...
Topics
- Adenine
- Adolescent
- Adult
- Cells, Cultured
- Child, Preschool
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 6
- DNA, Mitochondrial
- Female
- Guanine
- Heterozygote
- Humans
- Lipoma
- MERRF Syndrome