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Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation

✍ Scribed by Jeffrey A. Canter; Alex Eshaghian; Joshua Fessel; Marshall L. Summar; Jackson L. Roberts; Jason D. Morrow; James E. Sligh; Jonathan L. Haines


Book ID
113629476
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
223 KB
Volume
38
Category
Article
ISSN
0891-5849

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Pathogenetic aspects of the A8344G mutat
✍ Dr. Nils-GΓΆran Larsson; Dr. Mar H. Tulinius; Dr. Elisabeth Holme; Dr. Anders Old πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 466 KB

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