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A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).

Myoclonic epilepsy with ragged-red fibers (MERRF) has been associated with an A--G transition at mtDNA nt 8344, within a conserved region of the tRNA(Lys) gene. Although the 8344 mutation is highly prevalent in patients with MERRF, it is not observed in 10%-20% of the cases, suggesting genetic heter...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Silvestri, G, Moraes, C T, Shanske, S, Oh, S J, DiMauro, S
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1992
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682905/
https://ncbi.nlm.nih.gov/pubmed/1361099
Etiketak: Etiketa erantsi
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