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.

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...

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Auteurs principaux: Holme, E, Larsson, N G, Oldfors, A, Tulinius, M, Sahlin, P, Stenman, G
Format: Artigo
Langue:Inglês
Publié: 1993
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682176/
https://ncbi.nlm.nih.gov/pubmed/8447321
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