The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction
β Scribed by Kurenai Tanji; Josep Gamez; Carles Cervera; Fermin Mearin; Arantxa Ortega; Javier de la Torre; Julio Montoya; Antoni L. Andreu; Salvatore DiMauro; Eduardo Bonilla
- Publisher
- Springer-Verlag
- Year
- 2003
- Tongue
- English
- Weight
- 658 KB
- Volume
- 105
- Category
- Article
- ISSN
- 0001-6322
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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
## Paalman Transmitochondrial cybrid cell lines homoplasmic for the A8296G mtDNA transition, a mutation associated with several mitochondrial diseases, have a normal oxidative phosphorylation function, as shown by oxygen consumption, lactate production, respiratory enzyme activities, and growth usi