Article
The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.
Annals of neurology - 1 Dec 2003
Rossmanith Walter, Raffelsberger Thomas, Roka Julia, Kornek Barbara, Feucht Martha, Bittner Reginald E
Abstract excerpt
In a case of childhood-onset myoclonus epilepsy with "ragged-red fibers" (MERRF), a hitherto unreported mutation within the mitochondrial tRNA(Lys) gene was identified as the cause of the disease. Substitution G8361A was maternally inherited, heteroplasmic in all tissues tested, and correlated with mitochondrial dysfunction in individual muscle fibers. The growing number of MERRF-associated mutations within the...
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