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. [electronic resource]
Producer: 19930408Description: 551-6 p. digitalISSN:- 0002-9297
- Adenine
- Adolescent
- Adult
- Cells, Cultured
- Child, Preschool
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 6
- DNA, Mitochondrial -- analysis
- Female
- Guanine
- Heterozygote
- Humans
- Lipoma -- genetics
- MERRF Syndrome -- genetics
- Male
- Mutation
- Polymerase Chain Reaction -- methods
- RNA, Transfer, Lys -- genetics
- X Chromosome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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